Quantcast
Channel: DNA
Viewing all 463 articles
Browse latest View live

A Chinese researcher claims that the first gene-edited babies have been born, and scientists are disturbed

$
0
0

crispr genetically edited babies chinese researcher He Jiankui

  • Chinese researcher He Jiankui claims he helped make the world's first genetically edited babies using a tool called CRISPR, the Associated Press reported. 
  • He claims the babies— a pair of twin girls — were born this month. 
  • There's still no independent verification of He's claim, but it drew strong criticism from members of the scientific community. 
  • More than 100 Chinese scientists signed an open letter condemning the experiment. 

 

A researcher in China has claimed he helped make the world's first genetically edited babies, the Associated Press reported on Monday. 

He Jiankui, of Shenzen, said he used gene-editing tool CRISPR on embryos of seven different couples during IVF treatment, resulting in the birth of twin girls this month. He said his goal was to alter the babies' genes in a way that would protect them from future HIV infection, the report said. 

Right now, He's claim has not been independently verified or published in a scientific journal, according to the AP. If it is true, the experiment is deeply controversial. 

CRISPR is a molecular tool that allows scientists to edit sections of DNA. Many researchers are interested in using the technology to eliminate or treat genetic diseases, as Business Insider previously reported. 

Read more: If you're a woman, you might have male DNA inside your body — here's why

When these gene edits are made in an adult, the changes remain confined to that individual, but editing the genes of sperm, eggs, or embryos is fundamentally different because any edits can be inherited, the AP report said.

In this experiment, He (who worked on the project with US scientist Michael Deem) attempted to use CRISPR to disable the CCR5 gene, the AP reported. This gene forms a "doorway" that allows HIV to enter cells, the report added. He told the AP that tests suggest one of the twins had both copies of the gene altered, the other twin had just one of her copies altered, and that there was no evidence of harm to other genes. 

But news of He's claims drew sharp criticism from many scientists, including some co-inventors of CRISPR technology. Here's a look at how many genetics experts reacted. 

The university where He is a faculty member called for an investigation

embyros laboratory shenzen

According to the AP, He opened a laboratory at Southern University of Science and Technology of China in Shenzhen. Though he has been on leave from teaching since early 2018, he remains on the school's faculty, a spokesman for He confirmed to the AP. 

In response to He's claims, the university issued a statement calling for international experts to form an independent committee, investigate the research, and release the results to the public. 

"The University was deeply shocked by this event and has taken immediate action to reach Dr. Jiankui He for clarification," the statement added. 

The statement also said the research was conducted "outside of the campus and was not reported to the University nor the Department." He "would not say" where the experiment was done, according to the AP. 

In a statement provided to StatNews, Rice University, where Deem is currently listed as a professor in the department of bioengineering, said it opened a "full investigation" into the research.

According to StatNews, the statement said that the school was not aware of the research ahead of time, and added that "this work as described in press reports violates scientific conduct guidelines and is inconsistent with ethical norms of the scientific community and Rice University."

Deem did not immediately respond to INSIDER's request for comment. 

More than 120 Chinese scientists signed a letter condemning the experiment

In a letter published on the social media site Weibo, more than 120 Chinese scientists called the experiment "crazy" and called for laws and regulations on gene editing. The scientists said He's procedure is an unfair blow to the reputation of biomedical researchers who follow ethical guidelines in their work.

"The Pandora's Box has been opened. We need to close it before we lose our last chance," the scientists wrote, according to a translation by Quartz. "We as biomedical researchers strongly oppose and condemn any attempts on editing human embryo genes without scrutiny on ethics and safety!"

Two co-inventors of CRISPR spoke out against the research, too

Jennifer Doudna UC Berkeley Biochemistry Molecular biology scientist Breakthrough Prize panel

Jennifer Doudna and Feng Zhang— two scientists credited as co-inventors of CRISPR technology — also released statements in light of the news. 

"If verified, this work is a break from the cautious and transparent approach of the global scientific community's application of CRISPR-Cas9 for human germline editing," Doudna, a professor of chemistry at UC Berkeley, said in her statement. "It is essential that this report not cast an untoward shadow on the many important ongoing and planned clinical efforts to use CRISPR technology to treat and cure existing genetic, infectious, and common disease in adults and in children."

feng zhang crispr

Zhang, a member of the Broad Institute at MIT and Harvard, called for a "moratorium on the implantation of edited embryos ... until we have come up with a thoughtful set of safety requirements first."

"Although I appreciate the global threat posed by HIV, at this stage, the risks of editing embryos to knock out CCR5 seem to outweigh the potential benefits," he added in a statement provided to the MIT Technology Review. "Not only do I see this as risky, but I am also deeply concerned about the lack of transparency surrounding this trial."

Other experts called the experiment 'dangerous,' 'reckless,' and 'misguided'

Some experts characterized the research as unethical human experimentation. 

University of Pennsylvania gene-editing expert Dr. Kiran Musunuru told the AP it is was "unconscionable ... an experiment on human beings that is not morally or ethically defensible."

"If true, this amounts to unethical and reckless experimentation on human beings, and a grave abuse of human rights," Marcy Darnovsky, executive director of the Center for Genetics and Society, said in a statement provided to StatNews

"Today's report of genome editing human embryos for resistance to HIV is premature, dangerous and irresponsible,"Joyce Harper, a researcher of women's and reproductive health at the University College London, told Nature.

Some took issue with the apparent goal of editing embryos to prevent future HIV infection, arguing that even if it did work, the gain wouldn't be worth the substantial risk. 

HIV test

"The lifetime risk of contracting HIV is extremely low in the first place; there are other means of prevention and [HIV] is no longer an incurable, inevitably terminal disease,"Dr. Sarah Chan, a bioethicist at the University of Edinburgh, told the Guardian. "Putting these children at such drastic risk for such a marginal gain is unjustifiable."

"There are already entirely appropriate ways to protect children from HIV transmission without changing the genetics," Ewan Birney, director of the European Bioinformatics Institute, wrote in a blog post published Monday.

Read more: Scientists used CRISPR to cure an inherited disorder in mice, and it could be the first step in one day editing the genes of humans

Some experts (including Zhang) also expressed concern over the possible negative effects of removing the CCR5 gene. People who lack normal CCR5 genes have a higher risk of contracting some other viruses like West Nile, and of dying from the flu, the AP reported. 

"I believe this is a misguided, inappropriate and unethical study," Birney's post continued. "It is an entirely inappropriate procedure."

Visit INSIDER's homepage for more.

This post has been updated to include a Rice University statement provided to StatNews.

Join the conversation about this story »

NOW WATCH: We tried a dog DNA kit — and learned a bunch of secrets about our dogs


Chinese researcher behind genetically edited babies is now under investigation and suspended without pay

$
0
0

He Jiankui

  • The Chinese researcher who claims to have led the creation of the world's first genetically edited human babies, has been suspended without pay since February.
  • His unverified claims of leading the team behind genetically edited human babies has attracted fierce condemnation for breaching medical ethics — and possibly the law.
  • The researcher, He Jiankui, is now also being investigated by his university.

He Jiankui, largely unknown until yesterday, is an associate professor at Shenzhen’s Southern University of Science and Technology of China (南方科技大学 or SUSTC).

The Guangdong province-based researcher said he used gene-editing tool CRISPR on embryos of seven different couples during IVF treatment, resulting in the birth of twin girls this month.

CRISPR is a molecular tool that allows scientists to edit sections of DNA. Many researchers are interested in using the technology to eliminate or treat genetic diseases, as Business Insider has previously reported.

The result He claims, was newborn twin girls, who have been bestowed with immunity to HIV through CRISPR edited DNA.

According to an Associated Press report, He Jiankui said the father had the disease and the mother did not. He said his ultimate goal was to alter the babies' genes in a way that would protect them from future HIV infection.

The Shenzhen university distanced itself from He in a statement Monday that said the researcher had been on unpaid leave from February 1, 2018 and was not expected to return until January 2021.

He's academic board said He had “seriously violated academic ethics and norms."

"Our school will immediately hire authoritative experts to set up an independent committee to conduct in-depth investigations and publish relevant information after investigation," SUSTC said in the statement.

Read more:A Chinese researcher claims that the first gene-edited babies have been born, and scientists are disturbed

Caixin reports that He also heads six companies in China, mostly in the genetics sector.

When contacted by the Chinese magazine, a representative of Shenzhen Hanhai Genetic Biology Technology Co. Ltd. — one of the companies He runs — refused to say if they were aware of the project, but told Caixin the experiment was not conducted on their premises.

The experiment has in no way been verified or published in any academic journal.

China’s state-run People’s Daily published an online article about it on Monday but later removed the story.

There has been a follow up article in the English language version of the Communist Party mouthpiece, distancing itself from the controversy.

If it is true, the experiment is deeply controversial.

Gene-editing of this nature is illegal in many countries including the United States and according to Caixin, such experimentation is also banned by a Chinese regulators.

More than 120 Chinese scientists signed a letter condemning the claim by He.

“The project completely ignored the principles of biomedical ethics, conducting experiments on humans without proving it’s safe,” said Qiu Zilong, a neuroscience researcher with the Chinese Academy of Sciences (中国科学) in Shanghai who wrote the letter.

“We can only describe such behaviour as crazy.”

According to the South China Morning Post, the letter was published on social media on late Monday and was signed by scientists at some of China’s leading research universities, such as Peking University and Tsinghua, as well as overseas institutions, including Stanford in the US and Singapore’s Agency for Science, Technology and Research.

SEE ALSO: Bill Gates says it would be a tragedy to pass up gene editing technology

Join the conversation about this story »

NOW WATCH: Beautiful time-lapse videos show how much China has changed over the years

The Chinese scientist who created the world's first gene-edited babies is speaking publicly about the controversial practice

$
0
0

HONG KONG GENE EDITED BABIES

  • A Chinese scientist on Wednesday made his first public comments about his claim to have helped make the world's first gene-edited babies.
  • The work is highly controversial because the changes can be passed to future generations and could harm other genes.
  • He says he altered the DNA of twin girls when they were conceived to try to help them resist possible future infection with the AIDS virus.

A Chinese scientist on Wednesday made his first public comments about his claim to have helped make the world's first gene-edited babies.

He Jiankui of Shenzhen detailed the work that he said led to the births earlier this month of twin girls whose DNA he altered when they were conceived.

The work is highly controversial because the changes can be passed to future generations and could harm other genes.

He spoke Wednesday at a conference on gene editing in Hong Kong, the first time he's discussed his experiment in a public venue.

He says he altered the DNA of twin girls when they were conceived to try to help them resist possible future infection with the AIDS virus.

Harvard Medical School dean Dr. George Daley says it would be unfortunate if a misstep with a first case led scientists and regulators to reject the good that could come from altering DNA to treat or prevent diseases.

Daley spoke Wednesday at an international conference in Hong Kong, where Jiankui also is scheduled to speak.

SEE ALSO: A Chinese scientist claims he used a controversial gene-editing tool to alter the embryos of twin girls that were just born A Chinese researcher claims that he helped make the world's first genetically edited babies — twin girls born in November — using CRISPR, a powerful gene-editing tool.

Join the conversation about this story »

NOW WATCH: The science of why human breasts are so big

The Chinese scientist who claims to have edited baby DNA is reportedly not under house arrest after all

$
0
0

He Jiankui Dna babies

  • The Shenzhen university connected to the scientist He Jiankui, told the South China Morning Post that the scientist is not being held under house arrest.
  • He, who stands by his claims to have produced the world’s first gene-edited babies and has not been seen since Wednesday, was previously reported to have been detained.

The university in southern China linked to its DNA-editing former associate professor He Jiankui, has told the South China Morning Post that the scientist has not been put under house arrest, despite reports that he had.

He, who stands by his claims to have produced the world’s first gene-edited babies, was reported by local Hong Kong's Ming Pao (明報) local newspaper to have been brought back to Shenzhen by the university's president and placed under house arrest somewhere on campus.

The reports claimed he was taken there after he made an appearance at the Second International Summit on Human Genome Editing in Hong Kong on Wednesday. He has yet to be seen in public since the summit.

Facing his colleagues at the summit, He defended the experiments that have attracted global condemnation.

In a glowing interview with CCTV in 2017, He was praised for his work in radical gene-sequencing and comes off as gripped by an enthusiasm for the apparent enormity of the experiments.

"Some people said we shook the global gene-sequencing industry. Right. It’s me. He Jiankui. I did it," he told CCTV.

However, last week, Xu Nanping, vice minister of the Ministry of Science and Technology, told the Xinhua News Agency that Chinese authorities had ordered the research of anybody involved in "the gene-edited babies incident" to be suspended.

Xu said the experiments were"extremely abominable in nature."

He's instant notoriety that has since stunned the science world began a week earlier with a YouTube video in which he claimed that gene-edited twins had been born in China. He has not produced any scientific literature to back up the claims.

He said that his team of researchers had modified twin sisters’ embryos using a molecular tool that allows scientists to edit sections of DNA. In this case, allegedly switching off an HIV-related gene because their father, but not their mother, was infected with the virus.

The result He claims, was newborn twin girls, who have been bestowed with immunity to HIV through "CRISPR"-edited DNA.

Many researchers are interested in using the CRISPR technology to eliminate or treat genetic diseases, as Business Insider has previously reported, but the idea that He has gone ahead and manipulated human genes caused much disquiet.

More than 120 researchers condemned He's work in a letter as "unethical" and "crazy," while in this article from Qianlong.net, He is condemned for "opening Pandora's Box just for an irresponsible adventure."

He was also condemned by Chinese health officials and is facing an investigation from the Ministry of Science and Technology, which has ordered him or anyone connected to the experiments not to touch a test tube.

A spokeswoman for the SUSTC told The Post that the only information about his whereabouts that now mattered was going to come via the official channels.

"Right now nobody’s information is accurate, only the official channels are," the spokeswoman told The Post.

The Shenzhen university distanced itself from He in a statement Monday. It said the researcher had been on unpaid leave from February 1, 2018 and was not expected to return until January 2021.

It also said it would establish an independent committee and investigate the matter.

It certainly wasn't always this bleak for the scientist local media have begun calling "China's Frankenstein," (中国的弗兰肯斯坦). According to public records reviewed by The Post, from 2015, He had received 41.5 million yuan (US$5.96 million) in government funding for his research on genome sequencing.

SEE ALSO: Chinese researcher behind genetically edited babies is now under investigation and suspended without pay

Read More: The CRISPR gene-editing tool has been tested on a human for the first time— here’s how it works

Join the conversation about this story »

NOW WATCH: Navy SEALs explain the dangers of overplanning in both the military and business

An 88-year-old woman was reunited with her daughter 69 years after thinking her baby had died during childbirth

$
0
0

Genevieve Purinton and Connie Moultroup

  • Genevieve Purinton was reunited with her daughter, Connie Moultroup, on Monday in Tampa, Florida. 
  • When Purinton gave birth in 1949, aged 18, she was told her baby had died during childbirth. 
  • Little did she know, her daughter had been sent to an orphanage and later adopted by a family in California. 
  • The pair were reunited after Moultroup learned her mother's name through an Ancestry DNA test she received for Christmas last year.

An 88-year-old woman who thought her only child died during childbirth 69 years ago learned her daughter is still alive through an Ancestry DNA kit.

Genevieve Purinton, who lives in an assisted living home in Tampa, Florida, met her daughter, Connie Moultroup, for the first time on Monday, according to FOX 13.

They were reconnected after Moultroup received an Ancestry DNA kit for Christmas last year and learned the name of her mother.

Research led her to the telephone number of a cousin, who put her in touch with Purinton.

"It's been a lifetime of wanting this," Moultroup, who lives in Vermont, told FOX 13. "I remember being 5 years old, wishing I could find my mother." 

Purinton thought she was alone before being connected with Moultroup — her eight siblings had passed away, and she'd lived her life thinking her only daughter had died in childbirth.


Read more: There are clear benefits of being an adopted child, but knowing where you came from is crucial


"I said I wanted to see the baby. They told me she died," she told FOX 13.

Little did she know, the baby was taken to an orphanage and later adopted by a family in Southern California.

When the pair first connected on September 8, they spoke for 30 minutes, according to Yahoo.

Their calls quickly turned into bi-weekly chats, and Moultroup decided to fly to Florida to finally meet her biological mother.

"She couldn't deny me if she wanted to — we look exactly alike," Moultroup joked to Yahoo. "We have the same facial features, bad knees, and we've both had heart attacks and strokes."

Through meeting Moutroup, Purinton learned she also has a granddaughter and great grandchildren.

Join the conversation about this story »

NOW WATCH: 6 airline industry secrets that will help you fly like a pro this holiday season

A tiny startup wants to pay you for your DNA, and it could lead to the next wave of medical innovation

$
0
0

LunaDNA Team Dawn Barry

  • A startup called LunaDNA is taking a new approach to genetic research by paying individuals to share their information with scientists.
  • Right now, some DNA testing companies already sell your genome for medical research, though you can usually opt out.
  • You probably won't get rich off your DNA. LunaDNA estimates the value of your whole genome at $21, for now.

More and more, researchers are studying individuals' genetic information to find new medical treatments.

But a big challenge has been collecting enough information from enough people to find new cures. A startup called LunaDNA is pioneering a new approach, offering to pay people for their DNA and other health information.

Individuals will get shares of LunaDNA for providing their genetic data, as well as for activities like uploading their medical records or keeping track of what they eat and how much they work out. The idea is that the more someone participates, the more stock they'll accumulate, and the more they'll be rewarded.

"The people we want to attract are looking to solve a problem together, to help get in the fight against disease," Dawn Barry, the company's president and a co-founder, said in a November interview. "It’s not so much how much money you want to get back — people are in it for the altruism."

DNA testing startups like 23andMe already sell your genetic information for medical research, though you can opt out. Unlike 23andMe, LunaDNA doesn't provide the genetic testing itself. Instead, users can upload their files from companies like 23andMe.

The venture is just getting started. LunaDNA has raised $4 million and employs 12 people. The US Securities and Exchange Commission signed off this week on LunaDNA's plans to give individuals stock, and the company's web portal where users can upload their info opened on Wednesday.

LunaDNA wants to give you more control over how your data is used, and directly compensate you for sharing more. The company will provide aggregated data to researchers with identifying information removed, and only with the consent of the individuals involved. Members can delete their data from the platform at any time.

Read more: DNA-testing company 23andMe has signed a $300 million deal with a drug giant. Here's how to delete your data if that freaks you out.

"When value is created, it’s not all kept by the institution," Barry said in a December interview. "It’s actually distributed back to the community."

DNA Testing 23andMe

You probably won't get rich by selling your genetic information. Unlike stock in a company, the shares that LunaDNA is giving its users don't have a monetary value and can't be bought or sold. Instead, they'll give users regular payouts when LunaDNA starts making money.

Read more: I've taken AncestryDNA, 23andMe, and National Geographic genetics tests — here's how to choose one to try

The company estimates the value of a user's whole genome at $21, or 300 shares. It'll give you 2 shares, worth 14 cents, for 20 days of nutrition or fitness data. As more users sign on to the site, and more researchers begin using it, the goal is for those values to increase, Barry said.

LunaDNA was founded in October 2017 by veterans of the DNA sequencing company Illumina, and counts Illumina Ventures among its backers. Barry, 44, worked at Illumina for a dozen years and CEO Bob Kain, 57, was an Illumina employee for 15 years. The third co-founder, chief finance officer David Lewis, 47, previously worked at an investment company.

23andMe is getting serious about drug development — and it could signal a fresh approach to finding new medicines

Regulators just gave DNA-testing startup 23andMe the go-ahead to offer a health product that scientists have called dubious

Google's life-extension spinoff teamed up with Ancestry to study 54 million family trees — and learned that a surprising factor helps determine how long we live

I tried a test that let me peek inside my microbiome, the 'forgotten organ' that scientists say is the future of medicine — and what I learned shocked me

Join the conversation about this story »

NOW WATCH: Why Harvard scientists think this interstellar object might be an alien spacecraft

Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good

$
0
0

DNA Testing 23andMe

  • Genetic testing will be a cornerstone of healthcare in 2019, experts say.
  • There are two ways to do the testing: getting a costly but complete genetic workup through a doctor or opting for a cheaper at-home test like those sold by 23andMe.
  • Clinicians and advocates criticize the at-home approach, which they say prioritizes convenience over privacy and long-term health.
  • But entrepreneurs counter that the at-home approach lets more people access information.
  • Which method will win out, and at what cost?

As millions of Americans sat down to Thanksgiving dinner, the biomedical researcher James Hazel sent out a stark warning about the genetic-testing kits that he surmised would be a hot topic of conversation.

Most of them are neither safe nor private.

Hazel reached this conclusion after reviewing the privacy policies and terms of service of nearly 100 genetic-testing companies that offer their services directly to people. Most people use these services either by submitting a sample of saliva or uploading their raw digital DNA signature to a public database. Their lofty common draw is enabling people to learn more about their health, family history, and ultimately their identity.

Hazel, a researcher at Vanderbilt University, studied companies ranging from popular startups like 23andMe — which offers health and ancestry information — to under-the-radar outfits such as GEDmatch, which simply houses genetic information to help people build family trees. His article, which was published on Thanksgiving Day in the journal Science, found that nearly half lacked even a basic privacy document that governed genetic data.

Privacy isn't the only concern that experts have with consumer genetic tests. In addition to collecting sensitive data on ancestry, companies like 23andMe claim to show how your DNA affects your health. But clinicians, medical professors, and genetic counselors told Business Insider that this information is misleading and could put people at risk of missing warning signs for diseases like cancer.

"It’s very scary for us because patients think they’ve had a genetic test when they haven't," said Theodora Ross, the director of the cancer-genetics program at the University of Texas Southwestern.

Still, comprehensive genetic workups — the kind that require a doctor's visit — remain expensive and time-consuming.

That's led millions of Americans to rely on at-home kits for most of their genetic knowledge. This holiday season, genetic-testing kits broke sales records. Ancestry announced after Thanksgiving that it had sold 14 million DNA kits worldwide. 23andMe has assembled genetic data on more than 5 million customers.

Experts agree it's time for a different model, something between a pricey doctor-ordered test and the limited spit kits available in drug stores. And though several companies are trying new approaches, none has emerged as a leader. In the meantime, sensitive customer data is being uploaded and housed in large databases — sometimes forever.

Your sensitive data can be shared with others — even if you've never taken a genetic test

DNA Testing 23andMe

For law-enforcement officials to arrest suspected Golden State Killer Joseph DeAngelo on charges including four murders and dozens of rapes, they did not need him to participate in any genetic-testing services.

Instead, DeAngelo's arrest hinged on the participation of several of his distant family members. At some point, 24 people distantly related to him uploaded their genetic data to a public DNA database called GEDmatch.

After creating a fake GEDmatch profile using DNA they'd gathered at the scene of a 1980 crime, investigators were led to those people. By cross-checking the list against several other databases such as census data and cemetery records, they were able to close in on DeAngelo.

That's something Hazel and other researchers call "reidentification." He said it's a significant risk for people, even if they haven't ever personally taken a genetic test.

"The fact that law enforcement has access to this with just a subpoena, that was the impetus for my article," Hazel said. "I wanted to use it to highlight the deficiencies of the system."

Still, the process required a specialist and years of work, Curtis Rogers, the cofounder of GEDmatch, told Business Insider.

"It takes many people, each supplying little bits of information, to begin the complicated process of solving a cold case," Rogers said.

'Informed consent' is not always informed

Most genetic-testing companies say they use something called "informed consent" to verify that people understand what their genetic data may be used for. Most well-established companies like Ancestry or 23andMe ask for consent when a customer signs up or registers their kit; others put it in a 10- or 20-page terms-of-service document.

Informed consent is especially important because some companies keep genetic data for a long time, sometimes indefinitely. That means it can be used in different ways, including for purposes like solving a murder, that customers might not have anticipated.

DNA data collected by the companies is also being used for drug research, like in the case of 23andMe's $300 million deal with pharmaceutical giant GlaxoSmithKline, and for research on longevity and aging, like in the case of Ancestry's now-ended partnership with Google spinoff Calico.

Read more:DNA-testing company 23andMe signed a $300 million deal with a drug giant. Here's how to delete your data if that freaks you out.

The conflict over informed consent mirrors a recurring debate in medicine about the role of gatekeepers in healthcare. Just as the web made it easy for patients to research their symptoms before reaching out to a doctor, consumer genetic tests have enabled people to query their genome without needing permission from a specialist.

Entrepreneurs say these new capabilities are empowering because they arm people with new information about themselves. Anne Wojcicki, the founder of 23andMe, has said repeatedly that giving individuals the ability to peek inside their genes allows them to be more active stewards of their health.

"My hope is that 23andMe, by being less and less regulated, will enable more people to open their eyes to science," Wojcicki said at a Fortune conference in 2016.

An Ancestry spokesperson shared that sentiment.

"Our highest priority is protecting our customers’ privacy, starting with enabling our customers to always maintain ownership and control over their own data and educating them on how to manage their privacy settings," they said.

"Any data included in research collaborations is based on customers' voluntary explicit informed consent to participate in research."

But privacy advocates and clinicians disagree with this view. Genetics is a scientific field that even experts are only beginning to understand, they say. Although there are several genetic mutations that we can firmly say are related to disease, there are thousands of tweaks to our genome that we still have yet to even identify, let alone fully comprehend.

surprised phone texting

Some genetic tests could mislead you about your risk of disease

Today, 23andMe is the only genetic testing startup that does not require interacting with a physician to get information about how your DNA might affect your risk of disease. For $199, you can order its "Health and Ancestry" product online or buy one at a pharmacy.

But genetics experts and clinicians caution against using the test for anything beyond entertainment. The tests are not comprehensive, meaning they don't look at all your DNA. Experts say they are also frequently misunderstood by patients. Ross, the University of Texas Southwestern clinician, said that whenever a patient comes in with results from an at-home testing kit, she tells them to throw them away.

"When it comes to health, 23andMe is not helping. They're getting in the way," she said.

The 23andMe health report looks at some of the genes related to diseases, including breast cancer, celiac disease, Parkinson's, and Alzheimer's. It also tells you if you carry a genetic variant that you could pass on to your children, increasing their risk of genetic diseases like cystic fibrosis or sickle cell anemia.

The problem is that a 23andMe report that comes back negative for those genetic variants doesn't mean you're at a low risk of disease, because the tests don't look at all your DNA. Instead, they analyze only a small selection of all the genes that have been highly studied and are known to relate to disease risk.

"If you think of your DNA as a book, the vast majority of consumer genetic tests [let you] see a few letters on the page,"Elissa Levin, the senior director of clinical affairs for personal genomics startup Helix, told Business Insider.

"Those letters are very valuable if that is a particular mutation that's been highly studied," Levin added.

More important, while 23andMe tests for three of the tweaks known to be related to breast-cancer risk, there are other disease-linked mutations the test does not include.

"If someone did a consumer genetic test, they could be misinformed that there's nothing there of concern, when in fact they've only looked at a very small part of their genome," said Lisa Alderson, the CEO of genomic service network and medical practice Genome Medical.

Read more:Genetics testing company 23andMe has a new cancer test, but scientists say it's dangerous

DNA Testing 23andMe

A 23andMe representative said the company makes all these limitations clear to customers when they sign up for the test, and added that the product has been thoroughly reviewed by federal regulators at the Food and Drug Administration.

"Our health product undergoes levels of FDA scrutiny beyond most clinical tests," the representative said. "Our health tests meet a bar above 99% accuracy and contain information that meets the FDA requirements for clinical validity, meaning it's information related to one's health that's been well established in scientific literature."

They also said that the 23andMe health report clearly states that a negative report does not mean you are free of disease risk. The report reads:

"[Name], you do not have the three genetic variants we tested. However, more than 1,000 variants in the BRCA1 and BRCA2 genes are known to increase cancer risk, so you could still have a variant not included in this test."

Current tests may leave out 'the part that may save your life'

The single most important missing element when it comes to at-home genetic tests may be the human element, experts say.

That facet of genetic testing — translating genetic findings into health guidance that people can use — is the same one that's vital to a good doctor's visit. A person-to-person interaction can make the difference between a patient feeling defeated and determined.

Say you learned from a genetic test that you were at a heightened risk of a certain kind of cancer, for example. You might be left feeling hopeless and anxious. But imagine if instead of simply being told you were at a higher risk of cancer, you were also told that you could take a medical imaging test each year that has a high chance of catching your cancer early, when there's still time to intervene and save your life.

That's a role many experts say must be played by humans, at least until we have technology that can replace them.

"When you sit down with your doctor or genetic counselor or whoever the human being is who's talking to you about your result, you get a completely different view of it then if you’re sitting on a computer or it comes in the mail," said Ross.

patient doctor skin

But there aren't enough doctors or genetic counselors to meet the current demand for genetic-testing services. According to a recent report from the National Society of Genetic Counselors, for every graduate of genetic counselor training programs, there are two to three jobs available.

That's something Helix's Elissa Levin thinks about a lot. She's been watching the development of chatbots (robots that you can text or direct message with, similar to normal conversation) and wonders if they might one day play a role in helping deliver the findings of genetic tests.

"To me, part of the balance of providing something responsibly and making a safe and quality experience is making sure the information is provided in a really digestible way," she said.

But a new and better model hasn't emerged. There are some genetic testing services that let you order a genetic test through an independent physician who can help translate genetic findings remotely, including from Helix and a startup called Color Genomics.

A brave new world for genetic testing?

Some startups are beginning to experiment with new models for genetic testing. For instance, Nebula Genomics, says you can get your entire genome (your full book of genomic data, rather than simply a few letters) sequenced, own the data set, and earn digital money by sharing it.

Another approach is being pioneered by LunaDNA. Cofounded by Dawn Barry, a 12-year veteran of biotech giant Illumina, Luna is offering to pay people for their genetic information in the form of shares of LunaDNA.

Barry created Luna as one answer to the problematic genetic-testing landscape, which she said doesn't prioritize privacy or offer people control over their data.

"In many cases you're buying a product, but maybe you are the product, and those models don't feel as transparent as they should," Barry told Business Insider.

She said Luna ensures that when customers contribute their DNA data, that data is anonymized and maintained in what she called an "analytics sandbox," which protects it from hacking or leaks.

"If you want to delete your data, there's only one copy," Barry said. "It's gone. Your shares go back. You're forgotten about, so to speak."

SEE ALSO: A tiny startup wants to pay you for your DNA, and it could lead to the next wave of medical innovation

DON'T MISS: I tried a test that let me peek inside my microbiome, the 'forgotten organ' that scientists say is the future of medicine — and what I learned shocked me

Join the conversation about this story »

NOW WATCH: Here's what happens to your brain when you get blackout drunk

Pharma giant Eli Lilly just made an $8 billion bet on a cutting-edge scientific approach that uses DNA to treat cancer (LLY, LOXO)

$
0
0

Eli Lilly

  • The drug giant Eli Lilly announced on Monday that it was acquiring the cancer-focused biotech Loxo Oncology for about $8 billion.
  • Loxo focuses on gene mutations in treating cancers, which is a unique approach.
  • The deal is "bigger than what we've done before," Lilly CEO David Ricks said, but "isn't out of range to do again."

The pharma giant Eli Lilly & Co. on Monday said it planned to buy the biotech Loxo Oncology for $8 billion in cash.

It's an unusually large acquisition for Eli Lilly that also represents a massive bet on Loxo's genetically based approach to treating cancer.

Most cancer drugs treat a specific type of the disease, such as breast cancer or lung cancer, but Loxo's medicines target gene mutations in cancers instead.

As a result, its drugs are intended to treat more than one type of cancer — like Loxo's Vitrakvi, which was first approved in the US in late November and has been tested in people with cancers of the lung, colon, breast, and thyroid.

Eli Lilly already has a presence in oncology. Notably, the chemotherapy Alimta is one of its most valuable products, bringing in more than $2 billion in revenue in 2017, but the drug has been losing patent protection in other countries and could also lose it in the US soon.

That said, the drugmaker's cancer focus hasn't been in this type of "targeted" oncology before, the Stifel analyst Stephen Willey said. Drugmakers including Pfizer, Novartis, and AstraZeneca would appear more obvious acquirers for Loxo, he said. 

"The emergence of LLY is a little surprising, but LLY's existing commercial presence in [non-small cell lung cancer] and expiring Alimta exclusivity makes sense," Willey said. 

Read more:The FDA just approved a drug that targets cancers based on DNA, rather than where the tumor is in your body

The deal values Loxo at $235 a share, a premium of roughly 68% over the company's Friday closing price, Eli Lilly said. The deal is expected to close in the first quarter of 2019. If it doesn't go through, Loxo could owe Eli Lilly a breakup fee of $265 million, according to a new financial filing

The roughly $8 billion deal is Eli Lilly's largest acquisition by far since at least 2015, according to financial filings.

On a Monday-morning conference call, Lilly CEO David Ricks said that the acquisition was "bigger than what we've done before" but that Loxo also notably had four in-development or recently approved medicines. "I would say going forward it isn't out of range to do again," Ricks added.

Eli Lilly will keep looking for other deals in cancer and other areas, Ricks said, adding that there were "many more opportunities" in cancer because of recent scientific advances.

See:Here's why Bristol-Myers Squibb's record-breaking $74 billion biotech deal is facing investor backlash

Loxo already has a Food and Drug Administration-approved drug, Vitrakvi, which came out of a partnership with the drugmaker Bayer.

Eli Lilly noted that in its explanation of the deal, but it especially emphasized the company's experimental drug Loxo-292, along with two other drugs in development.

Termed a "RET inhibitor" for the types of genetic alterations that it focuses on, Loxo-292 has promise in multiple cancer types.

The medication has received a special "breakthrough therapy" designation from the FDA for lung cancer and two types of thyroid cancer, and it could start being sold as early as 2020.

Read more:

Join the conversation about this story »


10 things you didn't know about DNA tests

$
0
0

23andme testkit

  • Home DNA test kits like 23andMe are becoming more popular thanks to their convenience.  
  • These tests can often tell you if you have an elevated risk of developing a serious condition later in life.
  • You could uncover family secrets such as that you have half-siblings you never knew about, or aren’t biologically related to your family.
  • If you consent to have your data used in anonymous form for scientific research, you could find that your anonymized data is part of a significant scientific paper in the future.

Home DNA test kits are more popular than ever. While you probably expect to learn some interesting things about your ancestors and maybe turn up an unexpected cousin or three, there are a lot of surprising things you could learn if you take one, as well.

Here are 10 things that DNA tests can tell you that you had no idea about.

If your home DNA test includes a health component, you could learn whether you're at greater genetic risk for certain conditions and diseases.

In 2017, the FDA approved 23andMe to test for a range of 10 diseases. A year later, the FDA gave 23andMe clearance to tell consumers about their risk of cancer — but as NPR pointed out, it’s important to note that this is meant as a genetic risk assessment, and not any kind of medical diagnosis.

People may or may not want to know this information about themselves — particularly in the case of diseases or conditions where there’s currently no action you can take to prevent it, such as Alzheimer's.

It's worth remembering that even if your genetic test results show an increased risk, that doesn’t necessarily mean you will for sure develop a specific condition later in life.

Read more: I revisited my 23andMe results that can now tell whether you may have an increased risk of cancer — here's what it was like



Health insurance companies can't legally raise your rates due to genetic health risks uncovered through one of these tests — but life insurance companies might.

State and federal laws govern health insurers and discrimination against you based on genetic risk information uncovered via tests like this. But as certified genetic counselor Scott Weissman told WTTW, that's not the case with life insurance companies, which in some cases could make policy or coverage decisions based on that information.



The specific data different companies provide about and to you may differ.

As Business Insider's Lydia Ramsey discovered through taking several tests herself, the data revealed — as well as individual privacy concerns about how your data is stored, with whom it is shared, and how you can opt out of sharing if you prefer — differs from company to company.

Also, each company that offers home DNA test kits for sale is testing slightly differently, and also relying on a completely different database to which it is comparing your results.

As Gizmodo writer Kristen V. Brown discovered in January 2018, ancestral DNA tests are comparisons between your DNA and that of the current database of whichever company's test you've taken. It's comparative — and inexact because not all ancestries are equally well-represented.

"We have users around the world but of course there are going to be certain markets that are more interested in genealogy, or have more access to the internet to use our services. This is also the case with DNA testing — DNA testing is better known in the US and interest in DNA testing has exploded in Europe over the last few months. Over the coming months and years we expect to see even greater interest in both of these areas, all around the world," MyHeritage PR director Rafi Mendelsohn told INSIDER.



See the rest of the story at Business Insider

The Chinese scientist who claims to have edited baby DNA is downplaying reports that he is under house arrest. Here's a timeline of the controversy.

$
0
0

He Jiankui

  • Chinese scientist He Jiankui claims to have made the first genetically edited babies in the world using CRISPR technology.
  • Many scientists, ethicists, and government officials have criticized He, calling his research unethical and dangerous.
  • After presenting his findings at an international summit in November 2018, He vanished from public view until reports claimed he was being detained at a university guesthouse.
  • On January 7, The Telegraph reported that He may face the death penalty. Since then, new reports have quoted scientists saying He told them he is well and unharmed.

In November 2018, a Chinese scientist claimed he had made the first genetically-edited babies in the world, causing sharp criticism from other scientists, ethicists, and government officials.

The scientist, He Jiankui, used the gene-editing tool CRISPR-cas9, which is considered risky because it can inadvertently change a large portion of a person's DNA and have unintended consequences.

He, who worked on the experiment with US scientist Michael Deem, said he edited a gene called CCR5. The gene forms a "doorway" that allows HIV to enter cells, and turning it off makes people resistant to being infected in the future.

Even if everything went according to plan, the babies could be at greater risk of future health problems. The Associated Press reported that people without a regular CCR5 gene are more likely to catch the West Nile virus and die from the flu. 

Read more:Bill Gates says it would be a 'tragedy' to pass up a controversial, revolutionary gene-editing technology

Many of He's colleagues — including more than 120 Chinese scientists— have criticized He for choosing this route, saying there are plenty of ways to prevent HIV without putting someone in danger.

He has denied the twin girls were harmed.

Since November, He has became the subject of several investigations. Last week, several news outlets reported that he has been detained and may face the death penalty, though the scientist has reportedly said he is fine

Take a look at this timeline explaining the controversy surrounding He's research.

On November 26, He told an organizer of an international genome editing conference that he had altered the DNA of two baby girls. The Chinese scientist claimed he had altered the embryos for seven different couples, though only one person was pregnant as of November.

He said his goal was not to cure an inherited disease or even to prevent one. Instead, he wanted the babies to have a specific trait: the ability to resist an HIV infection.

His claims had not been corroborated by other experts or published in a journal before the scientist came forward. 

The university he worked at called for an investigation into He's research and said his work "seriously violated academic ethics and standards."

It was not immediately clear if the participants had known what He wanted to do. The Associated Press reported that consent forms called his project an "AIDS vaccine development" program.



He described his research at the Second International Summit on Human Genome Editing on November 28 in Hong Kong. He said he felt "proud" and noted that a third gene-edited baby could be born as a result of his work.

The researcher said "yes"when asked if the pregnancy was in an early stage, but he did not provide any more information.

He also said he submitted his research to a scientific journal for review, but he did not specify which publication he reached out to.

Southern University of Science and Technology of China in Shenzhen, where He conducted research, released a statement saying He's experiment was done "outside of the campus and was not reported to the University nor the Department."

Rice University, where Deem is listed as a professor of bioengineering, told STAT that it opened an investigation into the experiment.

 



China said on November 29 that it had suspended He's work, adding that his behavior seemed to violate Chinese law.

China's vice minister of science and technology, Xu Nanping, said He was still under investigation, but news reports had made it seem like he violated laws and broke "the bottom line of morality and ethics that the academic community adheres to,"The New York Times reported.

He was initially supposed to speak again at the Second International Summit on Human Genome Editing, but his November 29 talk was canceled.

Robin Lovell-Badge — a British scientist who helped organize the summit — said He had chosen not to attend after learning that it would have been tough to find enough security for the event, The Times reported.

Lovell-Badge told The Times he did not regret allowing He to present his research at the summit, but giving him a second chance to speak may have been perceived as showing support.



See the rest of the story at Business Insider

A genetic testing company you've never heard of could become a household name as it takes on 23andMe (NVTA)

$
0
0

DNA Testing 23andMe

  • Genetic testing will be a cornerstone of healthcare in 2019, but there's a war brewing over how to harness your DNA data without harm.
  • There are currently two ways to do the testing: a costly but complete genetic workup through a doctor or a cheaper at-home test like those sold by 23andMe.
  • Clinicians and advocates criticize the at-home approach, which they say prioritizes convenience over privacy and long-term health.
  • New hybrid approaches are beginning to emerge, starting with one from San Francisco-based genetics information company Invitae.

If the future of healthcare is in your DNA, there's a war brewing over how to harness the information it contains without causing harm to patients.

Today, there are two main ways to take a peak at your genes: either by getting a costly but complete genetic workup through a doctor, or by opting for a more affordable at-home test like those sold by 23andMe.

Clinicians and advocates criticize the at-home approach, which they say prioritizes convenience over privacy and long-term health. But entrepreneurs counter that the at-home approach lets more people access information.

A true hybrid approach — something that combines the benefits of comprehensive testing with the convenience of at-home tests while still keeping your data safe and private — has yet to have a sizeable impact.

Read more:Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good

That's where San Francisco-based genetic information company Invitae hopes to make a splash.

The company will soon let patients order a personal genetic test online through a genetic counselor or physician, Invitae CEO Sean George said last week at the J.P. Morgan Healthcare Conference. The company's tests are currently only available from a clinician who orders the test on a patient's behalf.

"We now in 2019 will focus on removing the barriers of access to [genetic] information and providing support for that individual every step of the way," George said during a presentation last week.

Subscribe to Dispensed, our weekly newsletter on pharma, biotech, and healthcare.

Why Invitae wants to be a little more like 23andMe — with one key difference

DNA Testing 23andMeSince its first test launched five years ago, Invitae has sequenced the genes of more than half a million patients. The company focused on diagnostic genetic testing for patients with conditions like cancer, heart disease, and rare disorders, as well as infertility and pregnancy. It catered to physicians and genetic counselors who would order the tests on behalf of their patients.

But as genetic information becomes increasingly important in healthcare, the Invitae team has begun to work on making its tests more accessible to more people. 

Patients will be able to order genetic tests online through a clinician by this summer, George said. Nearly any test on Invitae's clinical menu will be available this way, making Invitae one of the first companies to offer wider access to clinical testing for an array of conditions and inherited health risks.

Unlike at-home genetic tests, Invitae’s tests are clinical grade and will not require patients to follow-up their results with confirmation testing, a company spokesperson told Business Insider.

23andMe, perhaps the most widely-recognized name in genetic testing, sells its $199 'Health and Ancestry' kits in pharmacies or online without any input from a clinician. Because they're offered without a clinician's input, however, 23andMe's tests are not considered clinical grade. As a result, both the company and federal regulators instruct customers to confirm any health findings with a separate clinical-grade test.

'We aren’t interested in unleashing a whole bunch of information and providing no way to do anything with it'

Importantly, Invitae requires a physician or genetic counselor to be involved in all of its testing. Their role is to help translate complex genetic results into useful health guidance, Invitae CEO Sean George said.

Say you received a result that said you were at a high risk of an arrhythmia, or an irregular heartbeat. The genetic variants for this condition can be very difficult to interpret alone. While one variant could suggest to an expert that you're in immediate need of a pacemaker, another variant might simply require monthly check-ins with a physician. But only an expert can reliably tell you which variant you have and what to do next.

"It’s important to us that they have somebody that can walk them through the results and immediately get them in touch with a specialist," George told Business Insider in November.

Several experts recently echoed George's sentiment, telling Business Insider last week that failing to include a physician or genetic counselor with a genetic test is confusing at best and harmful at worst. That's something George has been thinking about for a long time.

"One of the questions we ask ourselves at Invitae is how we get this information to patients responsibly," George said.

In addition to Invitae, several other companies are also beginning to experiment with new hybrid models for genetic testing. Color Genomics, for example, lets you order a genetic test through an independent physician who can help translate the findings remotely.

And Nebula Genomics says you can get your entire genome sequenced, own the data set, and earn digital money by sharing it.

Another approach is being pioneered by LunaDNA, which is offering to pay people for their genetic information in the form of shares of LunaDNA.

George said that while he hopes Invitae's new initiative will help more people get access to their genetic information earlier, he wants to also ensure that people are able to act on the guidance they receive.

"Our mission is to get it in more people’s hands, but we aren’t interested in unleashing a whole bunch of information on folks and providing no way to do anything tangible with it," he said.

SEE ALSO: Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good

DON'T MISS: We talked to the top scientist at Alphabet's life-sciences company about how she plans to spend $1 billion

Join the conversation about this story »

NOW WATCH: Bed bug infestations are only getting worse — here's why they're so hard to kill

The world's oldest Nobel Prize winner, a 96-year-old physicist, says his new invention will give everyone in the world clean, cheap energy

$
0
0

Ashkin home lab.JPG

  • At 96, Arthur Ashkin is the oldest person to ever be awarded a Nobel Prize
  • Ashkin won half the 2018 prize in physics for his role in developing technology that makes very small beings "levitate" using only light. He did that work at Bell Labs in the 1960s, 70s, and 80s.
  • His discovery spurred the invention of optical tweezers, which have been used to stretch DNA and invent a life-saving malaria test, among other medical uses.
  • But the Nobel Laureate says he's not done inventing yet — his lifelong obsession with light has taken a recent turn toward solar energy. 

RUMSON, NEW JERSEY — Arthur Ashkin, the world's oldest Nobel Prize winner, favors comfort over style. When I met him in his New Jersey home, he was sporting a fleece-lined zip-up, corduroy pants, and fuzz-lined Crocs.

The outfit makes sense for someone who spends a lot of time tinkering with new inventions in the basement. Ashkin, who's 96 years old, has turned the bottom floor of his house into a kind of laboratory where he's developing a solar-energy-harnessing device.

"I'm making cheap electricity," he said.

Ashkin's new invention uses geometry to capture and funnel light. Essentially, it relies on reflective concentrator tubes that intensify solar reflections, which could make existing solar panels more efficient or perhaps even replace them altogether with something cheaper and simpler. The tubes are "dirt cheap," Ashkin says — they cost just pennies to create — which is why he thinks they "will save the world."

He's even got his eye on a second Nobel Prize. 

"And I’m gonna win too," he said.

Ashkin's lifelong fascination with light has already saved countless lives. He shared the 2018 Nobel Prize in physics for his role in inventing a tiny object-levitating technology called optical tweezers, which is essentially a powerful laser beam that can "catch very small things," as Ashkin describes it.

Optical tweezers can hold and stretch DNA, thereby helping us probe some of the biggest mysteries of life. The technique has been used in biology, nanotechnology, spectroscopy and more; it has helped researchers develop a malaria blood test and better understand how cholesterol-lowering drugs soften our red blood cells.

2018 nobel in physics ashkin mourou strickland .JPG

But Ashkin is not interested in many Nobel celebrations. He's already laser-focused on his forthcoming light "concentrators." 

How to levitate 

When Ashkin got his fateful call from the Royal Swedish Academy of Sciences in Stockholm on October 2, he thought it was a scam.

That's because another scientist, former US Secretary of Energy Stephen Chu, had already shared the 1997 Nobel for some related research at Bell Labs, which was where Ashkin had worked when he developed the optical tweezers.

Chu's work built on Ashkin's, which had involved gathering pond scum, plopping the wiggly organisms under a microscope, and making them "levitate," as Ashkin describes it, using only a laser beam.ashkin bell labs

"This light is shining on you, do you know that it's pushing you?" he asked me, pointing to a nearby lamp. "Most people don’t. But it is, because it’s got energy. The only thing is, it's so small, you don't feel it."

Ashkin started researching these properties of light in order to improve communications technology for Bell.

"Light is a wave, right?" he said. "In physics, it's also a particle ... and it's sort of a mysterious particle." 

But once Ashkin realized that pressure from photons — the fundamental particles of light — could pick up very small objects, he pivoted to focus on biology and started using optical tweezers to trap, lift, pull, and stretch things as small as DNA.

Bell Labs gave Ashkin license to explore the ways this technique might apply to living beings, and he figured out how to  hold single-celled organisms hostage using light. 

"You can tweeze them just like you would with tweezers," current Nokia Bell Labs President Marcus Weldon said "[Ashkin] could move nuclei around themselves, and they could do all these cool things."

Some of Ashkin's Bell Labs colleagues were dumbfounded when he caught critters in the light for the first time, he recalled. 

"'Oh you got to see this, Ashkin's trapping bugs! He's trapping bugs!'" he remembers someone shouting.

"It surprised me. It would surprise anybody," Ashkin added. "I invented optical levitation."

But Ashkin doesn't linger much on those moments much anymore — after he realized that early-morning Nobel Prize call was real, he was mostly excited about the prospect that the notoriety might help get his latest research published.

ashkin at his Bell microscope.JPG

Concentrating light

When Ashkin retired from Bell Labs in 1992, the labs gave him his levitation equipment to take home. He took everything but the all-important high-powered laser. (He said his house doesn't have the voltage to run it.)

Down in his basement, Ashkin now works with his curved spine hunched over a workbench. The cane he uses to walk around upstairs is cast aside and forgotten. Rolls of masking tape and silver reflective paper litter the wooden work tables and concrete floor. He has built so many shiny, light-bending contraptions in this basement lab, in fact, that some are overflowing into his garage, leaving barely enough room for the family car.

Ashkin has already filed the necessary patent paperwork (he holds at least 47 patents to date) for his new invention, but said he isn't ready to share photos of the concentrators with the public just yet.

Soon, he hopes to publish his results in the journal Science.

ashkin side eye.JPG

He's confident that once the design is released, the new technology will ricochet around the world, from his home in New Jersey to India and beyond, providing inexpensive, clean, renewable power to homes and businesses.

"Great intellects generally don't rest," Weldon said. "It's clear that [Ashkin]'s still questing to solve great problems despite his Nobel success. And I love that."

Ashkin says he'll use the Nobel Prize money to buy his wife a 'good meal'

Ashkin grew up in Brooklyn during the Great Depression, a bony rail of a kid who was a picky eater and subsisted mostly on milk. His father, a dentist, immigrated from the Ukraine. The only book he remembers the family owning was "The Book of Knowledge: The Children's Encyclopedia (That Leads to Love of Learning)."

Ashkin devoured the tome — especially the sections that featured a character named "Wonder Why."

"Wonder why would say 'why is the sky blue?'" Ashkin recalled. "Then Wonder Why would tell you. I was fascinated, because I wanted to know how things worked ... that was my introduction to science."

That curiosity eventually led Ashkin to get his PhD at Cornell. There he met a woman named Aline, who would become his wife of 64 years.

"I was very shy, but I knew that this lady was special," Ashkin said. "So I had enough nerve to ask for her phone number."

Ashkin asserts that he never took a chemistry class because he learned everything he needed to know about it from his wife, a chemistry whiz 10 years his junior. 

"I married her because she is smart!" he said.

The feeling is mutual. 

"I really am surprised that at the age of 96, he is so much 'with it' and so brilliant," Aline said, though she added, "he's a little bit cranky now, at times."

The Nobel laureate agreed: "I can be cranky," Ashkin said. 

ashkin and his wife.JPG

When asked how he'll use his prize money — which amounts to almost $500,000 — Ashkin said he's got one idea in mind.

"I want to take Aline to a good restaurant, and we'll have a good meal," he said. (His wife said there are five grandchildren going to college soon who could probably use a good chunk of that money, too.)

While Ashkin is looking forward to revealing his next invention to the world, his wife doesn't see any reason to wait for a second Nobel Prize to celebrate.

"I think one is enough," she said.

SEE ALSO: Bill Gates says investing in 4 simple plans has saved millions of lives and provided a better return on investment than the stock market

Join the conversation about this story »

NOW WATCH: A Nobel Prize-winning biologist explains why some people appear to age overnight

I tried 23andMe and Helix to find out which DNA test would guess my ancestry more accurately

$
0
0
  • DNA tests are a trendy way to find out your ancestry— they were some of the most popular holiday gifts last year.
  • However, critics have said results don't always tell the full story for those with genealogy outside of European countries. 
  • My dad's family kept a detailed record of their ancestry. If a DNA test is truly accurate, he says it will classify me as heavily African and partly Asian.
  • I took the 23andMe and Helix DNA tests to determine whether they'd confirm my dad's account and if so, to see which test would be more accurate.

Following is a transcript of the video.

Manny: Commercial DNA tests have been a huge trend lately. They were some of the most popular holiday gifts last year. Which makes sense, there's so much excitement in learning more about yourself. Some tests can shed light on health risks you might have, but the main ones tell you the composition of your ancestry.

Habtay Ocbazghi: It looks like DNA is helpful to trace your origin, but for me, I already know my origins.

Manny: That's my dad, he's very proud of me because I'm doing great things in life.

Clip: Manny: Chicken number one kills chicken number two in this competition.

Habtay: I was born in Eritrea. Eritrea is located in Northeast Africa.

Manny: His family kept a detailed record of their ancestors so that they would never forget where they came from.

Habtay: Up to the sixth generation, I know even where they are buried and where they used to have their farm lands. Some people crossed from Asia and people stayed in Africa. They lived together during war, during peace, and they intermarried.

Manny: I wonder though, could this be more accurate than a DNA test?

Habtay: I'm not that familiar with DNA but if it tells the origins of humans, your DNA will classify you as heavily African and partly Asian.

Manny: Let's find out! I ordered two DNA tests — the Helix test from National Geographic and 23andMe. Unboxing the tests was kind of exciting. They were neat and they had simple instructions. Generating enough spit was a challenge and I'm so sorry you have to watch this. A few weeks later...

Let's start with National Geographic's Helix test. The results classify me as East African. It says that 62% of my DNA can be traced to the continent of Africa and 36% can be traced to Asia. This is in line with what my dad predicted, but I'm a little skeptical that my Asian ancestry is so prominent.

Helix also noted that 2% of my DNA could be traced back to Europe. Specifically, the West Mediterranean. This region does include Italy, which did occupy parts of the Horn of Africa in the 1800s. Which could explain part of that 2%.

One thing that struck me about the Helix test was its description of East Africa. It tells me that my ancestry is associated with the birthplace of humankind, as well as the departure point for human migration out of Africa. This made me feel like a key part of human history. If only this ancestral journey didn't lead to a man who spends hours making SpongeBob memes.

Now let's look at the 23andMe test. 94.6% Eritrean, Ethiopian. 2.4% Sudanese and 0.3% Broadly South Asian. This test puts much more emphasis on my African ancestry and a lot less on my Asian ancestry. There was also no mention of any European ancestry. This makes a lot more sense to me, but I wonder how two separate DNA tests can produce such different results.

Robin Smith: So we take your DNA and compare you to reference data sets from around the world.

Manny: Robin Smith is 23andMe's Group Product Manager. To find out your ancestry, DNA tests compare your DNA with DNA from people around the world. And depending on the company, these reference data sets can vary.

Smith: Seeing your results here, it looks like Ethiopian and Eritrean so that's a group for which, you know, maybe a few years ago we wouldn't have had much of a data set but now because of our size we got a lot of data from that region so we're able to provide very good granularity there.

Manny: Some regions of the world aren't as represented as others in these reference data sets, leading to some disappointingly vague results for some customers. Thankfully my DNA tests were pretty accurate, but at the end of the day, they just confirmed what my dad already knew.

Join the conversation about this story »

I revisited my AncestryDNA test 3 years later and found some surprising changes to my results

$
0
0

DNA Testing 23andMe

  • I first took Ancestry's DNA test three years ago and found out that my family history was more complex than I initially thought. 
  • In September 2018, Ancestry updated its ethnicity estimates. As part of the update, my results got a lot more specific. 
  • In the updated results, I found out that I'm much more Norwegian than I thought. 

Since 2015, I've been sending my spit in to companies such as 23andMe and AncestryDNA to find out what I can learn from my genes. 

But the journey didn't end when I got my initial reports back. Since then, the tests have been updated, adding new reports in 23andMe's case and new features in Ancestry's case.

Most recently in September 2018, Ancestry did a major update to its ethnicity estimates for its $99 test. Curious to find out how my new results would compare with the ones I got before, I logged back on to the site.

Here's what I found. 

It's been about three years since I first sent my spit over to Ancestry to see what the company could tell me about my heritage. My AncestryDNA kit arrived in the mail in a small box the size of a hardcover book.



When I opened it up, I found a collection tube (and a bag to seal it in once I was done), a set of instructions, and a smaller box to send it all back in.



After a few minutes of dutifully spitting into the collection tube, I was ready to get my sample ready to ship. Following the kit's directions, I placed a special cap on my tube designed to release a chemical solution (the blue stuff on the top) to get — and keep — my spit in tip-top shape for sequencing.



See the rest of the story at Business Insider

Bill and Melinda Gates shined a spotlight on at-home DNA tests like 23andMe, calling them one of last year's biggest surprises

$
0
0

Bill and Melinda Gates

  • In their yearly letter, Bill and Melinda Gates called personal DNA tests, such as the kind 23andMe offers, the second-biggest surprise of 2018. 
  • The Gateses shined a spotlight on the tests' surprising utility in two divergent areas: crime and maternal health.
  • "We didn’t see this coming," the Gateses wrote at the top of their annual letter.

It’s going to be a big year for at-home DNA tests. The spit-in-a-tube kits, which offer the ability to learn more about your heritage and — to a lesser extent — your health, have spiked in popularity in recent years.

And now that at least 19 million people have used Ancestry and 23andMe’s kits, Bill and Melinda Gates are shining a spotlight on the tests' surprising utility in two fairly divergent areas: crime and maternal health. In their yearly letter, the Gateses called genetic tests the second-biggest surprise of 2018. 

"We didn’t see this coming," the Gateses wrote at the top of their letter.

Last year, law-enforcement officials used test results from the free genetic-research service GEDmatch to help home in on the lead suspect in the Golden State Killer case, Joseph James DeAngelo. By uploading DNA from one of the killer’s crime scenes to GEDmatch’s database and cross-referencing what they found on roughly 23 relatives against the data in census rolls and death certificates, they located DeAngelo and arrested him.

"When police used genetic test results to catch the Golden State Killer last year, the story made headlines around the world," Bill Gates wrote in the letter.

The use of genetic data in the Golden State Killer case hit a nerve with many people, from privacy experts and scientists to consumers who’ve either already taken or may be considering taking the tests.

Read more: DNA-testing company 23andMe signed a $300 million deal with a drug giant. Here's how to delete your data if that freaks you out.

DNA Testing 23andMeMany were concerned that the genetic data they’d shared with a DNA-testing company could be subject to use by police. And as it turns out, the testing service Family Tree DNA has previously complied with law-enforcement requests to look at its data, BuzzFeed News reported. However, other personal DNA-testing companies — including Ancestry and 23andMe — said they have not shared any of their data with police and would not in the future. Business Insider took a deep dive into each company's policy here.

But as the Gateses said in their letter, the Golden State Killer case was "not the only discovery to come out of at-home DNA tests."

In addition to being used in forensics, personal genetic tests are yielding some intriguing health-related findings.

Read more:Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good

One of those has to do with maternal health. After scanning the de-identified genetic samples of more than 45,000 women who'd taken 23andMe tests, researchers funded by the Gates found a potential link between preterm birth (birth before 37 weeks) and several genetic variants, or tweaks on genes that can differ from person to person. Their results were published in 2017 in the New England Journal of Medicine.

One of the variants the scientists looked at occurs on a gene that plays a role in the body's use of an essential mineral called selenium. Researchers still need to do a lot more research before they learn precisely if, how, and why the mineral affects the risk of preterm labor. But the Gateses said they believe the early discovery helps put scientists on the right path toward a solution.

"Better tools and more data sharing mean that we’re finally starting to understand what causes babies to be born early — and what we can do to keep them in the womb longer," Bill Gates wrote.

DON'T MISS: DNA-testing company 23andMe signed a $300 million deal with a drug giant. Here's how to delete your data if that freaks you out.

SEE ALSO: Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good

Join the conversation about this story »

NOW WATCH: NASA has a $3.5 billion idea to save Earth from a supervolcano apocalypse


23andMe is upending how we find new drugs, and the CEO says 13 are now in early trials

$
0
0

anne wojcicki 23andme at techcrunch 2017

  • Silicon Valley genetic testing startup 23andMe is making progress in its efforts to develop new drugs for everything from skin conditions to cancer and heart disease, the CEO said at an event last week.
  • Therapeutics with the 23andMe label would be a "source of pride" for the company, she added.
  • 23andMe now has 13 drug candidates in its pipeline with two compounds in the animal testing phase of research.

Could 23andMe-branded drugs one day grace the shelves of your medicine cabinet?

Anne Wojcicki, the cofounder and CEO of the Silicon Valley genetic testing startup, said it would be a "source of pride" if that happened. Her comments came during a panel at a health and tech conference organized by the Wall Street Journal.

23andMe has been working on creating its own drugs for everything from skin conditions to cancer and heart disease since 2015, when it hired former Genentech executive Richard Scheller to head up the program.

Wojcicki said she was "hopeful" for the day when there could be drugs branded with the 23andMe label.

Today, the company has 13 compounds in early stages of research, she said, and two of them are in a later phase of testing in animals. A team of at least 10 scientists is currently focused on studying those compounds, according to 23andMe's website.

23andMe also sells anonymized genetic data to drug companies for their own research initiatives. Last summer, for example, the pharmaceutical giant GlaxoSmithKline acquired a $300 million stake in 23andMe and struck a drug-development deal with the company. The startup also has partnerships with at least four other drug companies: Pfizer, Biogen, Genentech, and Alnylam. It's also working with P&G Beauty, the company behind products like Crest toothpaste and Ivory soap.

Read more: Why pharma giant GSK just made a $300 million bet on 23andMe's approach to finding new medicines

Traditionally, the process of creating new therapeutics can be long and costly. Some 86% of all drug candidates never make it into approved drugs, according to one recent analysis published in the journal Biostatistics.

But in contrast to most drug development work, which relies heavily on animal models and animal DNA, 23andMe's efforts begin with human data. The startup already has data from roughly 14 million customers. 

Wojcicki said that by starting with a data from people instead of animals, it's possible that 23andMe could have a higher chance of success at creating drugs that work.

SEE ALSO: Bill and Melinda Gates shined a spotlight on at-home DNA tests like 23andMe, calling them one of last year's biggest surprises

DON'T MISS: Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good

Join the conversation about this story »

NOW WATCH: NASA has a $3.5 billion idea to save Earth from a supervolcano apocalypse

After you spit into a tube for a DNA test like 23andMe, experts say you shouldn't assume your data will stay private forever

$
0
0

DNA Testing 23andMe

  • It may be getting easier to link your private and anonymized DNA data to your identity.
  • That means the genetic data you share with a testing company — which may include sensitive health information like your risk of cancer — could one day be matched with your name by an unintended party.
  • While some at-home DNA tests like 23andMe have privacy protocols to protect against this, they're not a guarantee, experts say. Other companies have fewer safeguards.
  • One key issue is the ability for users to upload their private DNA data to publicly-accessible genetic databases like the one used in the Golden State Killer case.

The data you shared with a genetic testing startup like 23andMe is private — for now.

But maintaining that privacy, which rests on your data being kept anonymous and secure, is getting harder, according to privacy experts, bioethicists, and entrepreneurs.

Your DNA data contains highly sensitive information about your health and identity. Everything from your ancestry to your risk of cancer to information about allergies and predisposition to Alzheimer’s are often included in a genetic test report. Whether it’s a political figure claiming indigenous heritage or a CEO with a genetic risk for mental illness, any one of these factors could be used against someone if they got into the wrong hands.

The most prolific genetic testing companies take thorough steps to protect your privacy, such as scraping personal identifiers like your name from your genetic code before they sell that data to researchers or drug companies. They also typically store your personal information and your genetic data in separate environments to protect against a potential hack.

But those protocols do not protect against several key vulnerabilities, experts say.

One involves what can happen to the data outside of the tough-to-define walls of a DNA testing service. While genetic testing companies can and frequently do share anonymized genetic data with researchers and drug companies, individual users can also upload their private, non-anonymous DNA reports to public databases like GEDmatch. That service, which was used to home in on the Golden State Killer suspect, allows for the identification of relatives who haven't even taken a genetic test.

Even large pools of anonymized genetic data can theoretically be tied to an individual. For at least the past decade, researchers have demonstrated that by cross-referencing anonymous DNA data with datasets that include personal information, such voter or census rolls, they can correctly "re-identify" significant portions of participants. 

Plus, most of the leading genetic testing services allow customers to download their raw genetic data — the As, Gs, Ts, and Cs that make up their genetic code — using their email and profile login. 

Privacy experts and bioethicists say all of these issues make the current landscape of genetic testing ripe for potential calamity.

“This is not video games that can be downloaded and shared without your permission, or even bank information,” Matt Mitchell, the director of digital safety and privacy for advocacy organization Tactical Tech, told Business Insider.

“You can cancel your credit card. You can’t change your DNA,” he added.

The case of the Golden State Killer: how private and protected DNA data can be exploited in public databases

Golden State Killer

When you mail your saliva sample to a company like 23andMe, Ancestry, Helix, or any one of a handful of current DNA testing startups, they run an analysis of the genetic data it contains. That DNA data includes your unique genetic code and it also includes your ancestry data, which can point to relatives. 

To protect your privacy, most of these companies make that data anonymous: they remove your personal information, such as your name, from the data, and they store the DNA data separately from your personal information.

Spokespeople from Ancestry, 23andMe, and Helix all told Business Insider that their privacy policies are designed to protect people's data within the walls of their platforms. But what happens outside of their domains is up to the individual customer.

In the case of the Golden State Killer, law enforcement agents uploaded their suspect's DNA to the open personal genomics and genealogy database GEDmatch using a sample from a crime scene. Then, with the help of a team of experts, they were able to comb through and compare several sets of data until they found their suspect, Joseph James DeAngelo. Key to their discovery was the fact that 24 of DeAngelo's relatives had participated in GEDmatch.

You share a lot of your DNA with your parents and siblings, and less with more distant relatives. But by comparing an anonymous DNA sample with identified ones, researchers can triangulate in on a person's relatives, and then, identify the person themselves.

None of the leading genetic testing companies allow users to upload raw DNA samples like GEDmatch does. But you can download your Ancestry or 23andMe genetic data and share it with GEDmatch or another public genealogy database.

"Today when you have a de-identified dataset and a complementary resource you can compare that data with — such as something like GEDmatch — you can begin to identify individuals from that,"James Hazel, a biomedical researcher at Vanderbilt University who recently reviewed the privacy policies of several genetic testing companies, told Business Insider.

'Data is data — once it’s out there, it’s very hard to control'

DNA Testing 23andMe

Until very recently, researchers considered the risk of re-identification — when someone correctly matches your anonymous DNA data with your personal information — to be extremely low. But as more people participate in genetic testing and as data analysis tools become faster and easier to use, this risk is on the rise, they say.

Hazel said the current risk of re-identification is "significant."

Dawn Barry, the president and cofounder of genetic research startup LunaDNA and a 12-year veteran of biotech giant Illumina, agreed.

"We need to prepare for a future in which re-identification is possible," she told Business Insider during a meeting on the sidelines of a health conference organized by the Wall Street Journal.

Since roughly 2009, researchers have demonstrated that by comparing large sets of supposedly anonymous DNA data with public datasets from censuses or voter lists, they could correctly identify between 40% and 60% of all genetic testing participants.

DNA databases have grown significantly since that 2009 experiment.

As of last fall, more than 19 million people had taken a private Ancestry or 23andMe test. On the heels of their growth, participation in public databases like Promethease and GEDmatch have ballooned as well.

"Data is data — once it’s out there, it’s very hard to control," Hazel said.

David Koepsell, a Yale bioethicist and the cofounder and CEO of blockchain-enabled genomics company EncrypGen, agreed.

"Re-identification is a real concern and people have done it with public databases. It’s not science fiction," he told Business Insider.

Last November, Yaniv Erlich, a geneticist and the chief science officer of ancestry company MyHeritage, led a study published in the journal Science in which he looked at DNA data from GEDmatch and MyHeritage. Erlich concluded that with a genetic database of 1.3 million US residents, roughly 60% of all white Americans could be traced to a third cousin. This finding was independent of whether people had themseleves participated in a genetic test.

"In the near future," Erlich wrote in the paper, "the technique could implicate nearly any US individual of European descent."

Spokespeople from Ancestry, 23andMe, and Helix all outlined comprehensive privacy policies that are designed to protect people's data when their data remains within the platforms.

"To protect against re-identification, we strip customers’ personally identifiable information from their genetic information, storing the two sets of data in separate, walled-off computing environments," a 23andMe representative told Business Insider via email.

Helix and Ancestry spokespeople shared similar policies.

'It could go wrong': Experts warn against downloading your personal DNA data

Helix DNA 7But Ancestry, 23andMe, and Helix all allow users to download their raw DNA data. The download is free from Ancestry and 23andMe but costs $499 with Helix. A Helix spokesperson said the fee was because Helix provides a more comprehensive genetic dataset than the other platforms.

In most cases to download their DNA data, a user must log into the platform and select "download my raw DNA." Then they get an email where they must confirm the download. After clicking confirm, a text file download begins.

23andme raw data download screenshot

Once a customer downloads their genetic data, however, it is no longer protected by any of company's security measures.

"What you do with your data is your responsibility, whether that means sharing your login name and password with others, sharing through 23andMe, downloading your data or anything else," 23andMe's website reads.

Experts say this setup does not adequately protect users. At minimum, they say the platforms should encrypt the genetic data from the time it is sent to the time it is received. They also pointed out that a person's login information may be the same as their email, another potential security weakness.

"This is Privacy 101," Mitchell told Business Insider. "These companies need to have the highest level of security and they don't." 

Mitchell and Hazel both said they believed genetic testing companies should use two-factor or multi-factor authentication, a security step enforced by many banks and data companies. It requires users to give two or more pieces of evidence (such as their phone number and a pin) before allowing access to sensitive data.

"This is something a lot of companies do," said Mitchell. "If someone really cares about your data they're going to handle it with the utmost caution. Downloading raw data is dangerous and it could go wrong."

Hazel thinks more users should be aware of these vulnerabilities, as well as the various ways their data may be used that go beyond their initial intentions.

"It comes down to the trade-off," he said. "How comfortable are you with how the data might be shared and used?"

SEE ALSO: Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good

DON'T MISS: DNA-testing company 23andMe has signed a $300 million deal with a drug giant. Here's how to delete your data if that freaks you out.

Join the conversation about this story »

NOW WATCH: Sea cucumbers are so valuable that people are risking their lives diving for them

Investigators in Alaska used DNA from a genealogy website to pinpoint a suspect in a 26-year-old murder case

$
0
0

Steven Downs

  • Steven H. Downs, of Auburn, Maine, was arrested on Friday in connection to the the April 26, 1993 murder of 20-year-old Sophie Sergie. 
  • Downs was charged with first-degree murder and sexual assault. 
  • Charging documents revealed that Downs was named a suspect through DNA technology that wasn't available in the 1990s. 
  • Police matched Downs to the suspect profile through public DNA testing technology that helps people find their genealogical roots, used by places including 23andMe and Ancestry.com.

Investigators in Alaska used the DNA technique that led to a suspect in the notorious Golden State Killer case to pinpoint a suspect in a murder that happened 26 years ago.

Alaska State Troopers announced on Friday that investigators used genetic genealogy to arrest 44-year-old Steven H. Downs, of Auburn, Maine, in connection to the April 26, 1993 murder of 20-year-old Sophie Sergie, according to court documents obtained by the Portland Press Herald.

Downs was charged with first-degree murder and sexual assault.

Court filings revealed that Downs was named as a suspect after police used public DNA testing technology connected to sites like Ancestry.com and 23andme.com to re-examine DNA evidence taken from the crime scene and the victim's body.

The technology helped authorities make an arrest last year in the Golden State Killer case in California, in which Joseph DeAngelo is accused of at least 13 murders, and 50 rapes that occurred in the 1970s and 1980s.

Sophie Sergie was visiting the University of Alaska, Fairbanks when she was killed

Sergie was found dead in a bathtub at a University of Alaska Fairbanks residence hall in 1993. She was a former student who was visiting friends at the time.

She was last seen by friends shortly after midnight when she went to smoke a cigarette, and was discovered by a custodian hours later.

Read more:Canadian police arrested a suspected serial killer accused of killing 8 men at his apartment and said they found a 9th victim alive and tied to his bed

A medical examiner determined she had been sexually assaulted and died from a gunshot wound to the head. She had also been stabbed, according to CBS News.

Biological evidence including DNA was collected at the scene, but limited technology failed to produce any breakthroughs. No murder weapon was found at the time.

According to court documents, Downs, then 18 and living at the the dorm, was interviewed by investigators but denied knowing anything.

Downs was named a suspect after police searched public DNA profiles

As years went by, DNA technology advanced, and in 2000 officials discovered that the suspect in Sergie's murder was a male.

A DNA profile was uploaded to the FBI’s Combined DNA Index System, though no match was found in the criminal database.

Downs' aunt voluntarily submitted DNA evidence to a genealogical profile website. The link led investigators to Downs, who was living in Maine and working as a nurse.

According to court documents, Downs's former roommate in Fairbanks, who was a security guard who helped secure the murder scene in 1993, was re-interviewed by police in 2010 after investigators learned he was fired for possessing a firearm.

He denied having a .22-caliber firearm — the type of gun that was used to kill Sergie — but said Downs had a H&R model .22-caliber revolver at the time of the murder. The claim wasn't enough to arrest Downs, investigators reported in court documents.

Last year, investigators contacted a lab that uses genealogical databases to identify criminal suspects though public DNA profiles from commercial companies.

As reported by court documents, investigators found the suspect profile matched Downs' aunt on the database, which led them to Downs. Investigators then obtained a search warrant for Downs' DNA, and it matched the murder suspect's profile.

According to court documents, Downs told investigators he recalled Sergie's murder —  "I remember the pictures, it's terrible, poor girl," he said — but claimed he spent most of the night Sergie was killed with his girlfriend, who also lived in the dorm.

Downs was taken into custody on Friday and will be extradited to Alaska.

Join the conversation about this story »

NOW WATCH: Michael D'Antonio reveals Donald Trump's 'strange' morning ritual that boosts his ego

Swiss drug giant Roche reportedly readies to buy the biotech behind the first FDA-approved gene therapy and the priciest medicine in the US (ONCE, RHHBY)

$
0
0

Gene therapy hereditary blindness eye exam

  • Swiss drugmaker Roche is nearing a deal to buy Philadelphia-based biotech company Spark Therapeutics, the Wall Street Journal reported on Saturday.
  • Spark's gene therapy is for a rare form of blindness and is the first of such treatments to be approved by US regulators.
  • At $850,000, the one-time treatment called Luxturna is currently the most expensive medicine in the country.
  • Spark is also working on gene therapies for hemophilia, a lucrative market for Roche.

Swiss drug giant Roche is gearing up to buy a biotech company behind the first federally-approved gene therapy and the most expensive medicine in the US, the Wall Street Journal reported on Saturday.

Called Spark Therapeutics, the Philadelphia-based biotech created a one-time treatment called Luxturna for a rare form of blindness. It currently costs $425,000 per eye, or $850,000 total. That price tag makes it the priciest medicine in North America.

The Roche-Spark deal could be announced as early as Monday, the WSJ said, at a sticker price of close to $5 billion. As of Friday's close, Spark had a market value of less than half that amount. 

Founded in 2013, Spark pioneered research on a new class of treatments for a rare, genetic form of blindness called Leber congenital amaurosis at Children's Hospital of Pennsylvania. In 2017, the US Food and Drug Administration approved Spark's one-time treatment for the condition, making it the first of such gene therapies to win regulatory approval.

But gene therapies are tough to develop and even tougher to receive.

And although Spark announced earlier this month that it had shipped 75 vials of its new drug and generated $27 million in sales, the company generated less than $65 million in revenue last year, the WSJ reported, and posted a net loss of close to $79 million.

For Roche, the deal is expected to be part of the Swiss pharma giant's expansion into treatments for hemophilia, a rare disorder in which someone's blood doesn't clot as it should because it lacks blood-clotting proteins. Spark is working on treatments for the disorder, which is also a large potential source of growth for Roche. 

Gene therapies are buzzy but costly and hard to get

Gene therapySpark's treatment for blindness falls into a larger category of potentially revolutionary new medicines known as gene therapies. Despite decades of being touted as having the potential to cure dozens of diseases, the treatments remain tough to access. Few have been approved by federal regulators; those that have can cost roughly $1 million to get, and even more to develop.

Earlier this month, Spark said it had shipped 75 vials of its new drug and generated $27 million in sales, according to the Philadelphia Business Journal. Yet the company generated less than $65 million in revenue last year, the WSJ reported, posting a net loss of close to $79 million. 

The approach behind Spark's treatment — and all other gene therapies— involves modifying a person's DNA to address the underlying cause of an inherited disease. Doctors take a sample of someone's diseased cells, correct the errors in the code, and return the corrected cells to the person's body. Over time, the healthy cells outnumber the diseased ones, and the illness disappears for good, the thinking goes.

Read more:This Silicon Valley startup envisions a future 'where gene therapies are as accessible as vaccines'

But developing the therapies and getting them to patients has proven a steep challenge. In addition to targeting rare diseases, patients have to pay close attention to the time they take them to ensure they work. Plus, they are expensive and only offered at a small number of accredited facilities, according to a recent analysis from the IQVIA Institute for Human Data Science and the Arm Foundation for Cell and Gene Medicine.

After launching its gene therapy Luxturna, Spark released three different payment models to attract more patients to use it, Business Insider previously reported. Those included paying for the treatment based on how well it works and paying for it in installments over time. 

Spark is also working on gene therapies for hemophilia, a lucrative emerging area for Roche. Two years ago, Roche won FDA approval for Hemlibra, its treatment for one type of hemophilia and a drug that is expected to generate billions of dollars in annual sales. 

DON'T MISS: Drugmaker Roche's new rare disease treatment is letting it edge its way into an exclusive but lucrative $10 billion global market

SEE ALSO: This Silicon Valley startup envisions a future 'where gene therapies are as accessible as vaccines'

Join the conversation about this story »

NOW WATCH: What staring at a screen all day does to your brain and body

A Chinese scientist claims to have genetically-engineered babies — here's what editing DNA means

$
0
0
  • A Chinese scientist claims to have genetically-engineered human babies with the revolutionary technique known as CRISPR.
  • If his claims are verified, the infants will be first ever babies with DNA that's been edited in a lab, or so-called CRISPR babies.
  • Editing human DNA in this way could save lives, but many researchers fear unintended consequences.

Following is a transcript of the video.

In 2011, scientists created glow-in-the-dark cats. The researchers took a gene from a glowing jellyfish and inserted it into the unfertilized eggs of house cats. It was a neat trick, but they had a bigger goal in mind. They also made the cats more likely to be resistant to a feline form of AIDS by, again, manipulating their DNA. And cats aren't that different than humans. In fact, we share around 90 percent of our DNA with them. 

So why can't we engineer humans in the same way?  Well, we can — engineer ourselves to be resistant to life-threatening illnesses, that is. In fact, one scientist claims that he's genetically engineered two babies using a revolutionary tool called CRISPR. But what exactly is a CRISPR baby, anyway?

Would you like to be six feet tall? Or never bald? The secret to traits like these lies in the six billion letters of your genetic code. But there can be something else in there as well. Mutations. Genetic mutations are linked to at least 6,000 medical conditions, from sickle cell anemia to Huntington's disease. But what if you could make those mutations simply disappear? That's where the gene-editing tool CRISPR comes in.

CRISPR is made from specialized proteins and other compounds found in certain bacteria. Normally, these proteins protect the bacteria by destroying enemy invaders like viruses, but the inventors of CRISPR figured out how to turn those proteins against genetic mutations and other genes linked to disease.  

First, they give the proteins coordinates of the wanted gene. Then, CRISPR runs a seek-and-destroy function. After that, other molecules are dispatched to repair the gene with new, healthy DNA. And just like that, you can edit the human genome.

But while edits may be quick, their changes can last for centuries. Especially if you're editing the DNA in an embryo. Embryos start out with a single cell that eventually replicates into millions and then trillions more. So, if you alter that initial cell first, you're manipulating the ingredients for every cell that follows later in life, and those same altered cells can be passed on from generation to generation. That's one reason why most experiments on human embryos haven't left the lab.

That is, except for the work of Dr. He Jiankui. He claims to have used CRISPR to target and knock out the CCR5 gene in human embryos, which is linked to HIV infection. And then he did something that shocked the scientific community. He implanted the embryos into several women, one of whom gave birth to genetically modified twins. Resistance to HIV aside, most scientists say that the procedure was too risky.  At least two studies suggest that edited cells might actually trigger cancer. And another found that CRISPR can accidentally take aim at healthy DNA.

So, while CRISPR could make us immune to disease, who knows what else we might get on the side?

Join the conversation about this story »

Viewing all 463 articles
Browse latest View live


<script src="https://jsc.adskeeper.com/r/s/rssing.com.1596347.js" async> </script>