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Category Archives: Transhuman News

Scientists Push Back Against Booming Genetic Pseudoscience Market – Gizmodo

Posted: July 14, 2017 at 11:50 pm

The premise behind Yes or No Genomics is simple: Genetic disease is typically caused by a variation in at least one of the many thousands of genes in the human genome, so knowing whether your DNA code contains variants could suggest whether your health is at risk. And for just $199, the scientists at Yes or No Genomics can use special technology to determine that.

Except Yes or No Genomics isnt a real company. Its satire.

The mind behind this parody is Stanford geneticist Stephen Montgomery, who hopes the website he launched this week will highlight the extreme absurdity of many of the scientific consumer genetic tests now on the market. Fork over $199 to Yes or No Genomics, and you will find out, inevitably, that you do have genetic variants, because everyone does. And that specialized optical instrument used to determine this? A kaleidoscope.

Montgomery is one of a growing number of scientists pushing back against wild claims in the consumer genetics market, which is flush with tests promising to plumb the secrets of our DNA for answers to everything from what kind of wine well enjoy to what diseases were at risk of developing. These tests vary wildly in levels of absurdity. One test that recently earned eye-rolls promises to improve a childs soccer abilities with a personalized, genetics-based training regimen. In case its not clear, there is still no way to decode from DNA the perfect plan to turn your 7-year-old into a soccer star.

Clearly, there is a whole world of companies that are trying to take advantage of people, Montgomery told Gizmodo. Sports, health advice, nutrition...companies are coming out saying, We can look at your DNA and tell you what you should be doing. Really, though, were still trying to understand the basics of genetic architecture. We need to help people avoid getting caught in these genetic traps.

In the wake of that ridiculous Soccer Genomics test, Montgomerys parody site went viral among those who closely follow genetics developments on the web. And he isnt the only researcher who has realized that combatting psuedoscience in the annals of academic journals isnt enough.

For years, Daniel MacArthur, a geneticist at the Broad Institute, ran a blog dedicated in part to exposing bad science in the realm of genetics. Like many scientists, he now uses Twitter to call attention to bogus tests. Other reliable Twitter crusaders include UCLA geneticist Leonid Kruglyak, health policy expert Timothy Caufield, and CalTech computational biologist Lior Pachter. For every new pseudoscientific DNA test, it seems more voices join the chorus.

Its a pretty exciting time to be in genetics. Theres a lot happening, MacArthur told Gizmodo. But that also makes it really easy for people who dont know anything about genetics to enter the consumer market.

Plenty of the tests out there, MacArthur said, are relatively harmless. Finding out which wine youre genetically likely to enjoy probably isnt going to hurt much more than your wallet. But thats not always the case. MacArthur pointed to a simple genetic test that claimed it could detect autism, which he and his colleagues spoke out about after finding out the test had a patent in the works.

We were very confidant that the variants they were testing for had no relationship to autism, he said.

Genetics comes with this veneer of respectability and the public automatically thinks anything with the word genetics is trustworthy and scientific, he continued. It just isnt possible that there is a useful predictive test for soccer. For academics its easy to see that. But who is responsible for going out there and pushing back? Thats less clear.

In 2008, an European Journal of Human Geneticsarticleargued for better regulatory control of direct-to-consumer genetic testing, pointing out that many of these tests run the risk of being little better than horoscopes.

In rare cases, the Food and Drug Administration has stepped in. In 2013, it cracked down on 23andMe, ordering the company to cease providing analyses of peoples risk factors for disease until the tests accuracy could be validated. After gaining FDA approval, the company now provides assessments and risk factors on a small fraction of 254 diseases and conditions it once scanned for.

But the FDA has steered away from policing smaller, fringe companies like, say, those offering advice on your skin, diet, fitness and what super power you are most likely to possess. Some companies the FDA likely does not even have authority to police, since not all of them can be considered medical interventions.

Its kind of distressing to see [the FDA] go after 23andMe rather than companies that are lower profile, but doing science that is flatly incorrect, said MacArthur. What I would love to see would be an organization like the Federal Trade Commission really step in and take much more responsibility. Historically that just really hasnt happened.

Another thing MacArthur would like to see is companies list the scientific data underlying their claims. If consumers could easily see, for example, that the recommendation to drink apple juice from the company DNA Lifestyle Coach stemmed from a study of just 68 non-smoking men, they might more readily deduce how valid such a recommendation is.

Inspired by satirists like Stephen Colbert, Montgomery is interested in how effective parody might be as a tool to combat bad science. Ive gotten a lot of good reaction to the website, he said. I want to see how far can we take this as a joke.

But more than anything, he wants consumers to be wary of the ever-growing number salesmen peddling genetic snake oil.

We want people to understand which tests are actually useful, he said. People should be empowered in how they use this data.

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People in the News: Kri Stefnsson, Arthur Beaudet, and Mary Thistle – GenomeWeb

Posted: at 11:50 pm

People in the News: Kri Stefnsson, Arthur Beaudet, and Mary Thistle
GenomeWeb
The American Society of Human Genetics has named Kri Stefnsson the winner of this year's William Allan Award, a prize established in 1961 that recognizes a scientist for "substantial and far-reaching scientific contributions to human genetics ...

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NEW: DNA evidence links Riviera man to 2016 home invasion – Palm Beach Post

Posted: at 11:49 pm

LAKE PARK

A Riviera Beach man remained in custody Friday following his arrest last week in connection to an alleged 2016 home invasion robbery.

Authorities say DNA evidence linked Jivon King, 25, to an August 2016 home invasion at an apartment on Venice Circle in Lake Park. King was arrested July 6 on one count of armed home invasion robbery.

A judge ordered that King be held without bail.

His arrest came a day after deputies obtained a search warrant to collect his DNA, according to a sheriffs arrest report. Following the DNA collection, King agreed to speak to detectives, the report said.

He reportedly confessed to participating in the robbery with two other people. King said he met the other two suspects while working at the Sonic Drive-In on Congress Avenue and did not know them personally. The arrest report does not identify the suspects or indicate whether any other arrests were made in the case.

The accuser told investigators at the time that he was in his apartment that night when someone knocked on his door. When the resident asked who was at the door, someone allegedly replied that it was your neighbor.

The accuser opened the door and confronted by two masked suspects, one of them armed with a handgun, deputies said. The accuser began to fight for possession of the gun before falling to the ground as the armed suspect stood over him, according to report said.

The second suspect searched the apartment and stole marijuana, prescription medication and $120 in cash. The resident said the suspects tried to disguise their voices, but he recognized one of them.

He consented to a search of his apartment and collection of DNA from his person. Investigators submitted a sample to the Combined DNA Index System, which returned a match to King, the report said.

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NEW: DNA evidence links Riviera man to 2016 home invasion - Palm Beach Post

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Scientists Store Video Clip in DNA of Living Cells – Smithsonian

Posted: at 11:49 pm

Throughout human history, people have come up with all sorts of data storage systemsfrom cuneiform and chiseled inscriptions to hard drives and compact discs. But they all have one thing in common: At some point, they degrade.

Thats why researchers have been on a quest to find more durable data storage, like diamonds and even DNA. Now for the first time, reportsGina Kolata at The New York Times,scientists have encoding a brief movie in the DNA of living cells using theCRISPRCasgene editing techniquea move that could lead to cellular recording of health data. They published their results this week in the journalNature.

The concept behind DNA data storage is relatively simple. While digital files are essentially stored by recording a series of the numbers 0 and 1, DNA can store the same data by encoding the information into its four nucleobases, A, G, C and T.

AsRobert Service at Science reports, scientists have been doing just that since 2012, when geneticists first encoded a 52,000-word book in DNA. Though initially inefficient, over time the technology has improved. In March, a team of researchers reported they had encoded six files, including a computer operating system and a film into synthetic snippets of DNA.

For this latest study, the researchers chose a film of a galloping horse recorded by British photographerEadweardMuybridgein 1878, one of the first motion pictures ever recorded, captured in an attempt to figure out if running horses ever had all four feet off of the ground.

Researchers used the CRISPR-Cassystem to transfer the DNA to the bacteria. This system harnesses the power of the bacterial immune defensesto alter the bacteria's DNA, explainsIan Sample forThe Guardian. When viruses invade, bacteria sends out enzymes to cut apart the virus' genetic code. And it incorporates fragments of the virus DNA into its own structureto remember the invader in case of future attacks. Scientistscan manipulate this system, controlling which bits of DNA hitch a ride into the bacterial genome.

The researchers created a synthetic strand of DNA containing a five-frame blockof this video as well as an image of a handthe lettersof the nucelobases representing the shade and position of each images' pixels. "The scientists then fed the strands of DNA to E. coli bacterium" writes Sample."The bugs treated the strips of DNA like invading viruses and dutifully added them to their own genomes."

We delivered the material that encoded the horse images one frame at a time, Harvard neuroscientist Seth Shipman, first author of the study tells Sample. Then, when we sequenced the bacteria, we looked at where the frames were in the genome. That told us the order in which the frames should then appear.

As Sample reports, researchers allowed the bacteria to multiply for a week, passing the DNA down through many generations. When they sequenced the genome of the bacteria they were able to reconstruct the encoded images with 90 percent accuracy.

While it would be cool to have The Lord of the Rings trilogy encoded in your DNA one day, Shipman tells Kolata thats not really the point of this particular research. Instead, he hopes that the technique could lead to molecular recorders that could collect data from cells over time.

We want to turn cells into historians, Shipman says in a press release. We envision a biological memory system thats much smaller and more versatile than todays technologies, which will track many events non-intrusively over time.

Ultimately, Shipman hopes to use the technique to study the development of the brain. Instead of trying to observe brain cells through imaging techniques or via surgery, these molecular recorders would collect data over time from every cell in the brain, which could then be decoded by researchers.

But that day is still a ways off and the current research is just a proof of concept. What this shows us is that we can get the information in, we can get the information out, and we can understand how the timing works too, Shipman tells Sample.

While Shipman is focused on health, the tech world is also taking notice of these DNA studies. Antonio Regalado at MIT Technology Review reports that in May, Microsoft announced that it is developing a DNA storage device and hopes to have some version of it operational by the end of the decade. The advantages of DNA storage are pretty obvious, Regalado reports. Not only does DNA last a thousand times longer than a silicon device, it can hold a quintillion bytes of data in one cubicmillimeter. Every movie ever made could be stored in a device smaller than a sugarcube. The movecould eventually end the days of massive, energy sucking data centersthat arerequired to keep track of everything from great literature tovacation photos.

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Male DNA retrieved in mystery of dismembered teen left in 3 bags on Long Island Parkway – New York’s PIX11 / WPIX-TV

Posted: at 11:49 pm

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BAY SHORE, N.Y. When PIX11 returned with the New York State Police to the Suffolk County spot where a gruesome discovery was made 35 years ago, it was a rainy day.

It was just like the day in February 1982 when three bags were discovered on the shoulder of the northbound Sagtikos Parkway. Those bags contained the body parts of 19-year-old Tina Foglia.

The location is very close to where the westbound Southern State Parkway feeds into the northbound Sagtikos in Bay Shore.

The DOT worker suspected it was a body because of the shape of the bags, Senior Investigator Simon Ocampo told PIX11. And when he got closer, he saw hair.

Tina Foglia was a brunette who loved the Long Island rock music scene at Hammerheads, once located on Sunrise Highway in West Islip -- a club that launched bands like Twisted Sister.

She spent her last night alive there on Feb. 1, 1982.

Tina was last seen at the exit of Hammerheads, Ocampo said.

She left about 3 a.m.

Acquaintances said Foglia, a home health aide from Brentwood, was known to hitchhike, even though her sister Amy had begged her not to.

The State Police are now sharing additional information with PIX11, more than three decades after Foglias murder, in the hopes that her case will be an early candidate for DNA familial searching, a special test approved for use this fall in New York state.

I think its a great candidate for it because we have the male DNA, Ocampo told PIX11.

Familial searching involves looking at Y chromosomes that are common among brothers, fathers, uncles and sons. There has been no direct hit on a national database for the male DNA retrieved in Foglias case, so familial searching could lead investigators closer to the unknown killer.

It has been 35 years, Ocampo said. The suspect may have had children or brothers who may have had sons.

Suspects convicted of many crimes in New York state are required to give a DNA sample and have it entered in a national database, called CODIS. If a criminal in the system is related to the unknown Foglia killer, investigators hope they will get a "partial match" hit on the database.

Theres definitely potential out there for relatives of the suspect to be in the system, Ocampo said.

Michael Harris is the primary investigator on the case whos working with Ocampo.

Now that technology has changed, thats why were looking into this case a little bit harder, Harris said.

The state police also shared photos with PIX11 from their case file. One shows a footprint the killer left in the mud. Another picture shows a diamond ring.

The ring belongs to Tinas sister, Amy Foglia Gagliardi, who moved to Virginia more than 30 years ago.

Amy and Tina had received identical diamond rings from their father. When Tinas dismembered body was found, the ring was missing. Yet police dont believe the motive was robbery.

Asked about the motive, Ocampo said investigators "think a sexual assault and a subsequent homicide to cover up the crime."

When PIX11 initially reported on the Foglia mystery in January, we noted the spot where Tinas body was found is several miles north of the Robert Moses Causeway, which leads to Oak and Gilgo beaches, important locations in the Long Island serial killer investigation.

We asked Senior Investigator Ocampo if Foglia could have been an early victim of LISK, the Long Island Serial Killer, who dismembered some of his victims.

Theres always the chance, Ocampo said. Its not something we would rule out.

But, Ocampo added, thats not an active avenue of the investigation.

Ocampo told us police interviewed Foglias ex-boyfriend, who was living in the south, and other men she knew in the months and years after the murder.

He said theyd like to interview some of the men again.

They also interviewed some band members from various groups that played at Hammerheads, including the music acts that were playing on Feb. 1, 1982.

Ocampo shared that some of the men interviewed over the years voluntarily gave swabs that could be tested for DNA evidence.

At the time Tina Foglia was killed, she was approximately 185 pounds and 5 feet 2 inches tall with brown eyes and brown, shoulder-length hair. Aside from Hammerheads, Foglia frequented other clubs in Islip and Babylon.

Even though police believe the killer could have pulled over on the shoulder of the Sagtikos Parkway, which is very close to the westbound Southern State Parkway ramp, they said he also could have parked on a Bay Shore street thats right behind the brush. The intersection is Privet Place and Gardiner Drive in Bay Shore.

I believe its solvable, Harris said. We just need that one, little break.

New York State Police are asking anyone with information to call them at 631-756-3300.

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Male DNA retrieved in mystery of dismembered teen left in 3 bags on Long Island Parkway - New York's PIX11 / WPIX-TV

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DNA results allowed in sex abuse trial – Bloomington Pantagraph

Posted: at 11:49 pm

BLOOMINGTON The statesapproval to use all of a DNA samplefor testing without prior notice to the defendants lawyer does not preclude the state from using the evidence at his sexual abuse trial, a judge ruled Friday in denying a motion to suppress the state lab results.

Defense lawyer Jennifer Patton argued that Wichmanns constitutional rights were violated because the DNA material is not available for testing by an expert hired by the defense. The material was collected from the inside of a condom, said Patton.

Patton cited an email exchanged between Assistant States Attorney Jacob Harlow and an Illinois State Police forensic scientist in January on the need to use all of the sample for testing.

In his email, Harlow approved of "consumption" of the sample, adding that this case hinges on the DNA findings.

Harlow told Judge Scott Drazewski that state Illinois Supreme Court evidence rules do not require the state to seek the courts permission to consume a DNA sample.

In the Wichmann case, additional DNA material is available from twoother samples and may be tested by the defense, said Harlow.

In his ruling, Drazewski characterized the DNA sample from the inside of the condom asevidence thats going to have much more persuasive information than the remaining samples.

The scientific methods used to locate and examine DNA profiles require a minimum amount of material, noted the judge, and sometimes the samples must be consumed in that process.

The state did not violate the rules of evidence or discovery, said the judge in his denying the the defense motion.

Patton said the defense will move forward with a review of the lab results by an independent expert.

Wichmann will be back in court on Sept. 15.

Follow Edith Brady-Lunny on Twitter: @pg_blunny

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AI can speed up precision medicine, New York Genome Center-IBM … – Healthcare IT News

Posted: at 11:48 pm

The potential for artificial intelligence in precision medicine is big, according to conclusions of a new study by the New York Genome Center and IBM.

The results, published in the July 11 issue of Neurology Genetics, a journal of the American Academy of Neurology, showed that researchers at the New York Genome Center, Rockefeller University and other institutions along with IBM verified the potential of IBM Watson for Genomics to analyze complex genomic data from state-of-the-art DNA sequencing of whole genomes.

[Also:IBM Watson, Illumina partner to deliver precision oncology on a large scale]

This study documents the strong potential of Watson for Genomics to help clinicians scale precision oncology more broadly, Vanessa Michelini, Watson for Genomics Innovation Leader for IBM Watson Health, said in a statement. Clinical and research leaders in cancer genomics are making tremendous progress towards bringing precision medicine to cancer patients, but genomic data interpretation is a significant obstacle, and thats where Watson can help.

The proof of concept study compared multiple techniques used to analyze genomic data from a glioblastoma patients tumor cells and normal healthy cells, putting to work a beta version of Watson for Genomics technology to help interpret whole genome sequencing data for one patient.

[Also:IBM Watson, FDA align to boost public health with blockchain]

Watson provided a report of potential clinically actionable insights within 10 minutes, compared to 160 hours of human analysis and curation typically required to reach similar conclusions, according to researchers.

The study also showed that whole-genome sequencing, or WGS, identified more clinically actionable mutations than the current standard of examining a limited subset of genes, known as a targeted panel. WGS requires significantly more manual analysis, so combining this method with artificial intelligence could help doctors identify potential therapies for more patients in less time, researchers concluded.

This informatics challenge is often a critical bottleneck when dealing with deadly cancers such as glioblastoma, with a median survival of less than 15 months following diagnosis, researchers noted.

Twitter: @Bernie_HITN Email the writer: bernie.monegain@himssmedia.com

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Malaria Genome Analysis Reveals an Abundance of Potential New … – Genetic Engineering & Biotechnology News (blog)

Posted: at 11:48 pm

The researchers used next-generation sequencing technology to count those barcodes, and hence measure the growth of each genetically modified malaria parasite. If the switched-off gene was not essential, the parasite numbers shot up, but if the knocked-out gene was essential, the parasite disappeared.

This work was made possible by a new method that enabled us to investigate more than 2500 genes in a single studymore than the entire research community has studied over the past two decades, explained co-senior study investigator Oliver Billker, Ph.D., senior group leader at Sanger. We believe that this method can be used to build a deep understanding of many unknown aspects of malaria biology and radically speed up our understanding of gene function and prioritization of drug targets."

The researchers systematically showed that the malaria parasite can easily dispose of the genes that produce proteins that give away its presence to the host's immune system. This poses problems for the development of malaria vaccines, as the parasite can quickly alter its appearance to the human immune system, and, as a result, the parasite can build resistance to the vaccine.

"We knew from previous work that on its surface the malaria parasite has many dispensable parts, remarked co-senior study investigator Julian Rayner, Ph.D., senior group leader and director of Wellcome Genome Campus Connecting Science. Our study found that below the surface the parasite is more of a Formula 1 race car than a clunky people carrier. The parasite is fine-tuned and retains the absolute essential genes needed for growth. This is both good and bad: The bad news is it can easily get rid of the genes behind the targets we are trying to design vaccines for, but the flip side is there are many more essential gene targets for new drugs than we previously thought."

The authors stressed that the factors influencing gene function go well beyond the realm of basic science research, concluding that the level of genetic redundancy in a single-celled organism may thus reflect the degree of environmental variation it experiences. In the case of Plasmodium parasites, this helps rationalize both the relative successes of drugs and the greater difficulty of making an effective vaccine.

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Yaron Turpaz appointed as new Chief Data & Technology Officer of Global Gene Corp – BSA bureau (press release)

Posted: at 11:48 pm

Before his appointment at GGC, Dr Turpaz was the CIO of Human Longevity Inc, where he led the development and implementation of the global cloud based informatics, analytics, and awards winning innovative solutions

Global Gene Corp(GGC), a UK based genomic data platform company announced that former Chief Information Officer (CIO) ofHuman Longevity Inc, DrYaron Turpazwill join the company as Chief Data and Technology Officer.

Dr Turpaz will also assume country management responsibility as Managing Director of GGCSingapore. He will be responsible for the enhancement and development of the company's global data and technology infrastructure, advance analytics, data sciences and machine learning, as well as the expansion of GGC's Asia operations at Singapore.

Dr Turpaz said, leaders, scientists, engineers, clinicians and healthcare professionals. I look forward to contribute to the success and health of GGC's global customers, and lead a data and technology driven transformation of healthcare

Sumit S Jamuar, CEO, Global Gene Corp said, With over 17 years of experience in the fields of bioinformatics, pharmaceuticals, digital health and genomics, Dr Turpaz is an invaluable addition to the company's executive leadership team

"I am delighted to welcome Dr Turpaz to my leadership team at Global Gene Corp. In addition to his complementary expertise and extensive industry experience, Dr. Turpaz is passionate about our mission and shares the value and ethos that drive us. I am looking forward to our journey together," he added

Before his appointment at GGC, Dr Turpaz was the CIO of Human Longevity Inc, where he led the development and implementation of the global cloud based informatics, analytics, and awards winning innovative solutions. He also established and led HLI's Asia operations. Prior to joining HLI, he held a VP, R&D IT role at AstraZeneca.

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FDA clears Philips’ light therapy wearable for mild psoriasis … – FierceBiotech

Posted: at 11:47 pm

Philips scored FDA clearance for its wearable light therapy device for the treatment of psoriasis. The rechargeable device delivers blue LED light to the skin in a drug-free approach that controls the symptoms of mild psoriasis.

Characterized by patches of thick, red inflamed skin covered with scales, psoriasis occurs when skin cells quickly rise to the surface, where they build up before they mature. The chronic disease affects more than 6.7 million adults in the U.S., according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases.

Philips launched the first-generation BlueControl system in Germany, the Netherlands and the U.K. in October 2014. The following year, the company earned a CE mark for the devices follow-up, which was introduced in additional markets, including Denmark, Finland, Sweden and Poland. The FDA has cleared it as a prescription device for home use.

RELATED: MetrioPharm advances psoriasis drug after phase 2 readout

A patient secures the BlueControl device on the affected body part using adjustable straps. The blue light triggers natural processes in the skin that ease the symptoms of psoriasis, which include redness and scaling. Specifically, it slows down the accelerated production of skin cells that results in plaques.

In addition to light therapy, psoriasis is commonly treated with pharmaceuticals. Topical treatments such as ointments or creams containing corticosteroids work well for some patients, but some patients with severe psoriasis may need medications that are taken orally or by injection. These include immune suppressants and drugs that interfere with specific immune system functions that cause the overproduction of skin cells.

RELATED: J&J's Tremfya gets its go-ahead to fight Novartis, Lilly in psoriasis. Can it stand out?

Patients who take immune-suppressing drugs are at higher risk of infection. Using light therapy alone, or in combination with medicationwhich allows a lower dose of eachis an attractive way to reduce thisrisk.

Now, Philips plans to engage with dermatologists and patient support groups in the U.S., with eyes on commercial launch early next year.

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