Category Archives: Genetics

23andMe and German Pain Specialist Grnenthal Explore the … – PR Newswire (press release)

"This collaboration demonstrates our continued commitment to pain supporting our ambition to deliver four to five new products to patients in diseases with high unmet needs by 2022, as it is Grnenthal's first step into generating Big Data which plays an increasingly important role in drug development and is essential to drive innovation. One perspective in the context of precision medicine is to use human DNA as guidance for which drugs work best in which patients. We aim to use the outcome of the study to identify starting points for the development of innovative, highly effective medicines," emphasizes Gabriel Baertschi, CEO of the Grnenthal Group.

"Pain is a complex disease. As a worldwide leader in pain, we are continuously striving to expand the body of knowledge to offer solutions for those patients who don't have a treatment option today," said Klaus-Dieter Langner, Ph.D., CSO of the Grnenthal Group. "We are very much looking forward to working with our expert collaborators at 23andMe to learn about the causal relationship between genetic patterns and different aspects to pain. Ultimately, our goal is to research and develop innovative, highly effective medicines for patients in need," Langner concludes.

"The goal of this study is to understand genetic factors associated with the experience of pain and response to medications designed to alleviate pain," said Emily Drabant Conley, Ph.D., vice president of business development, 23andMe. "Pain is often a unique experience for each individual, and therefore complex to understand and treat. By leveraging large amounts of genetic and phenotypic data this study may help develop a more personalized approach to pain management."

The new 23andMe and Grnenthal study could shed more light on why individuals experience pain differently by understanding genetic factors associated with pain sensitivity, progression, severity, and response to treatments.

About 23andMe23andMe, Inc. is the leading personal genetics company. Founded in 2006, the mission of the company is to help people access, understand and benefit from the human genome. 23andMe has more than two million customers worldwide, with over 80 percent consented to participate in research. 23andMe, Inc. is located in Mountain View, CA. More information is available at http://www.23andMe.com

About Grnenthal The Grnenthal Group is an entrepreneurial, science-based pharmaceutical company specialized in pain, gout and inflammation. Our ambition is to deliver four to five new products to patients in diseases with high unmet medical need by 2022 and become a 2 billion company. We are a fully integrated research & development company with a long track record of bringing innovative pain treatments and state-of-the-art technologies to patients. By sustainably investing in our R&D above the industrial average, we are strongly committed to innovation.

Grnenthal is an independent, family-owned company headquartered in Aachen, Germany. We are present in 32 countries with affiliates in Europe, Latin America and the US. Our products are sold in more than 155 countries and approx. 5,500 employees are working for the Grnenthal Group worldwide. In 2016, Grnenthal achieved revenues of approx. 1.4 bn. More information: http://www.grunenthal.com

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SOURCE 23andMe, Inc.

https://www.23andme.com

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23andMe and German Pain Specialist Grnenthal Explore the ... - PR Newswire (press release)

YouTube’s Alex Dainis: Blending Filmmaking and Genetics – Live Science

YouTube producer/host and genetics researcher Alex Dainis holds one of the tools of her trade.

In this series of articles, Live Science focuses the spotlight on some of YouTube's most popular science channels. Their creators weave together graphics, footage, animation and sound design in videos that can be as whimsical as they are informative, employing a range of techniques and styles. Yet all of them share a general curiosity and enthusiasm for the unexpected and fascinating science stories that exist in the world around us.

If you've ever wanted to peek behind the scenes at the day-to-day activities in a genetics laboratory there's a YouTube channel for that.

Vlogger and doctoral candidate Alex Dainis invites YouTube audiences into her lab at Stanford University, offering an insider's view of her journey as a graduate student training to work in the field of genetics.

Dainis who told Live Science that she loves talking about science "to anyone who will listen" uses her videos to share her affinity for cool science stories, to express her own considerable sense of wonder and excitement about all things related to genetics, to show how experiments are conducted in a lab, and to introduce scientists as real people, presenting "what we do and what our daily lives are like," she said. [The Most Interesting YouTube Science Channels]

Storytelling and science both hold equal fascination for Dainis, who worked in film production before attending graduate school at Stanford. But as much as Dainis enjoyed the moviemaking process, "I missed talking about science," she said. YouTube provided an outlet where she could bring the two together, and in 2012 she began posting short explainer videos describing interesting science stories and "fun facts," she told Live Science.

Her "Bite-Sci-zed" video nuggets of science are short each just a few minutes long and delve into diverse topics such as the spectrum of egg colors, what naked mole rats can teach us about cancer, periodical cicadas and their exoskeletons, and the genetics of seedless watermelons.

However, once Dainis began her graduate studies, she decided to take her YouTube channel in a more personal but still science-infused direction, producing videos that would share her daily experiences in the genetics lab as a doctoral candidate.

In the video series "What Is This Thing?" Dainis acquaints her audience with the common tools of her trade and a few uncommon ones. These laboratory items, which many non-scientist viewers are likely seeing for the first time, are an intrinsic part of genetics research, and Dainis' straightforward descriptions dispel some of the mystery surrounding how scientists sequence DNA and make the science more accessible.

She cheerfully introduces pipettes (syringe-like tools used to measure and move liquids), a hemocytometer (used for counting cells) and ethanol lamps a heating alternative to gas-powered Bunsen burners; Dainis said in the video that using them "makes me feel like I'm doing science on an old-fashioned whaling ship."

Another recent video documented something a little out of the ordinary in the life of a graduate student analyzing DNA with an astronaut, and exploring how NASA scientists can use genetic sequencing to monitor astronauts' health in space, and to search for extraterrestrial life.

"Sometimes it's really exciting and sometimes it's monotonous this is what science is, and I want to show a realistic picture of that," Dainis said.

And sometimes while making the videos, Dainis herself learns a thing or two. The chance discovery that nectarines were actually a type of mutant peach inspired Dainis to take a closer look at the genetics of the two fruits, resulting in "one of the coolest videos I did," Dainis told Live Science.

"Peaches and nectarines are actually the same fruit but with a single recessive allele difference," she said.

"I got to use some techniques in the lab that I use every day, and I got to show something very cool about a fruit that I had never considered before. That was so exciting. I was eating these fruits for years, and I had no idea they were the same thing!"

Her videos attract viewers representing a range of ages and professions, but the common threads running through all of them are fascination with science and curiosity about how it's done.

"I get comments from people all around the world; from middle-schoolers, from people thinking about careers in science, people who've been scientists for decades, and some people who're not in science but are interested in the process. They're in different stages of their careers, different walks of life I think it's very exciting that this community of science nerds has bloomed around these videos," she said.

Got a favorite science channel on YouTube that you think we should feature? Tell us about it in the comments or on Twitterand Facebook!

Original article on Live Science.

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YouTube's Alex Dainis: Blending Filmmaking and Genetics - Live Science

Seattle Genetics, Inc. Earnings: Solid Quarter, but Investors Wait – Motley Fool

Seattle Genetics (NASDAQ:SGEN) reported solid first-quarter earnings on Thursday, but the potential expansion of Adcetris into treating patients in other cancer settings and the development of the rest of the biotech's pipeline are what investors are mainly focused on.

Metric

Q1 2017

Q1 2016

Year-Over-Year Change

Revenue

$109 million

$111 million

(1.8%)

Income from operations

($59 million)

($21 million)

N/A

Earnings per share

($0.42)

($0.15)

N/A

Data source: Seattle Genetics.

Image source: Getty Images.

Clay Siegall, Seattle Genetics' chairman, CEO, and president, explained why the company delayed filing for approval of Adcetris in patients with cutaneous T-cell lymphoma (CTCL) using the ALCANZA trial:

And then we changed our guidance at our last conference call to mid-year, and that was because of our discussions with the FDA based on other data that we've had from investigator-sponsored trials, specifically two of them, which showed strong activity in CTCL with patients that were below the histology cutoff that we used in our ALCANZAtrial, and with patients that were in other subtypes of CTCL.

In other words, the added data could result in more CTCL patients approved to take Adcetris, producing more sales in the long term that should more than make up for the short-term lost sales from the delayed approval.

Adcetris has gotten more competition for patients with refractory Hodgkin lymphoma (HL) after the recent approvals of Bristol-Myers Squibb's (NYSE:BMY) Opdivo and Merck's (NYSE:MRK) Keytruda, but Darren Cline, Seattle Genetics' EVP of commercial, doesn't see the new drugs as a threat:

Despite the recent FDA approval of a second PD-1 inhibitor in [the] relapsed Hodgkin lymphoma setting, we have seen no erosion in share in our existing relapsed-HL business. Most prescribers have indicated they view the checkpoint inhibitor agents as interchangeable and would use both in post-Adcetris later lines of therapy or palliative setting[s], if necessary.

Seattle Genetics has a lot of potential, but investors are going to have to be patient this year, with most of the value-driving events happening in the latter half of the year.

The application to treat CTCL patients with Adcetris won't come until the middle of this year, so an approval probably won't arrive until late 2017 or possibly even next year. The ECHELON-1 phase 3 trial in frontline Hodgkin lymphoma is supposed to wrap up this year, but management hasn't given any more specifics on timing -- suggesting that it's likely to come in the latter half of the year.

Two pipeline drugs -- vadastuximab talirine and enfortumab vedotin -- are progressing nicely toward potential approvals. But vadastuximab talirine is still enrolling the phase 3 trial required to gain regulatory approval, and the registration trial for enfortumab vedotin won't start until the second half of this year.

Brian Orelli has no position in any stocks mentioned. The Motley Fool recommends Seattle Genetics. The Motley Fool has a disclosure policy.

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Seattle Genetics, Inc. Earnings: Solid Quarter, but Investors Wait - Motley Fool

Q&A: Teaching fellow wins award for genetics research – The Ithacan

Nandadevi Cortes Rodriguez, Ithaca College postdoctoral teaching fellow in the Department of Biology, has dedicated much of her research to studying genetics and evolution. Recently, Rodriguez won the award for Best Paper of Year in the Wilson Journal of Ornithology for her work researching speciation in birds.

Opinion Editor Celisa Calacal spoke to Rodriguez about her research, the findings of her paper and the importance of studying evolution.

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Q&A: Teaching fellow wins award for genetics research - The Ithacan

Scientists illuminate genetics underlying the mysterious powers of … – Phys.Org

May 1, 2017 Golden orb-weaver spider (Nephila clavipes). Credit: Matjaz Kuntner, Slovenian Academy of Sciences and Arts

Spider silks, the stuff of spider webs, are a materials engineer's dream: they can be stronger than steel at a mere fraction of weight, and also can be tougher and more flexible. Spider silks also tend not to provoke the human immune system. Some even inhibit bacteria and fungi, making them potentially ideal for surgery and medical device applications. Exploitation of these natural marvels has been slow, due in part to the challenges involved in identifying and characterizing spider silk genes, but researchers from the Perelman School of Medicine at the University of Pennsylvania have now made a major advance with the largest-ever study of spider silk genes.

As they report today in an advance online paper in Nature Genetics, Penn scientists and their collaborators sequenced the full genome of the golden orb-weaver spider (Nephila clavipes), a prolific silk-spinner that turns out to produce 28 varieties of silk proteins. In addition to cataloguing new spider silk genes, the researchers discovered novel patterns within the genes that may help to explain the unique properties of different types of silk.

"There were so many surprises that emerged from our study: new silk genes, new DNA sequences that presumably confer strength, toughness, stretchiness and other properties to silk proteins; and even a silk protein made in venom glands rather than silk glands," said senior author Benjamin F. Voight, PhD, an associate professor in the departments of Genetics and Systems Pharmacology and Translational Therapeutics. "All this new information should greatly advance our efforts to capture the extraordinary properties of these silks in man-made materials."

Even though spider silks have been studied for more than 50 years, earlier foundational work had identified only a comparative handful of spider silk genes. Even recent work from species with smaller silk repertoires than the golden orb-weaver's were incomplete. To find all of the silk genes hidden across the golden orb-weaver's genomethe veritable "lab rat" of spider silk sciencerequired the construction of the entire genome, a daunting task in itself.

In the new study, Voight and his colleagues began with the herculean task of sequencing and reassembling the genome of the golden orb-weaver: a task comparable to solving a multimillion-piece jigsaw puzzle, with few clues as to how these pieces fit together.

In the golden orb-weaver's genomewhich turns out to be about as large as the human genomethe researchers identified more than 14,000 likely genes, including 28 that appear to encode spider silk proteins, known as spidroins.

Spidroins have been classified into seven categories according to their protein sequences and functions; these categories include aciniform silk for wrapping prey (and tying down partners for mating); and the super-strong major ampullate silk from which spiders (and Spider-Man) swing while at work. However, some of the newly discovered spidroins have sequences that do not fit neatly into any of these categories, suggesting that the encoded silk proteins may have novel functions, or that the existing categories need to be redefined.

An extensive computational analysis of the orb-weaver's spidroin genes revealed nearly 400 short sequencesmany never before describedthat appear repeatedly in these genes with small variations and in different combinations. These repetitive spidroin "motifs" are of great interest to biologists and engineers because they are likely to confer the key properties of a given spider silk, such as high-tensile strength, flexibility, or stickiness. The analysis also revealed novel, higher-order organizations of these motifs into groups of motifs ("cassettes") and groups of groups ("ensembles").

Voight's team also examined gene transcripts from different orb-weaver silk glands and in each case found transcripts belonging to more than one spidroin class, suggesting that these glands are not strictly specialized for producing one type of silk. "We found significantly more complexity in silk production than we expected," Voight said.

The biggest surprise was the discovery that one of the orb-weaver's spidroinsFLAG-b, a novel discovery by the groupappears to be produced primarily in the orb-weaver's venom gland rather than in any silk gland, hinting at intriguing new functions for silk connected to prey capture, immobilization, or preservation.

In their analyses of the genome data, Voight and colleagues also identified 649 likely genes that are not spidroin genes but are highly expressed in silk glands, and thus probably have roles in converting the liquid silk from spider cells into solid, spinnable threadsa tricky process that biotech engineers are just beginning to achieve outside of spiders.

Voight and his team are now following up with a genome-sequencing study of Darwin's bark spider, which makes the strongest known silks, and has been known to span rivers with them.

The scientists are also at work on technology for the rapid production of silks in the lab starting from their spidroin DNA sequences, to better understand how these sequences and their motifs encode silks' biological and physical properties.

"When I say that we'd like to build a 'web-shooter' like Spider-Man's in the lab, I'm only half joking" Voight said.

Explore further: 3-D printing spiders

More information: The Nephila clavipes genome highlights the diversity of spider silk genes and their complex expression, Nature Genetics (2017). nature.com/articles/doi:10.1038/ng.3852

Spiders build webs, shelters and egg sacs from fine tough silk fibers. To apply these fibers, they must be properly attached to substrates or other threads and must cope with loading in highly-variable directions.

Spider silk of fantastical, superhero strength is finally speeding toward commercial realityat least a synthetic version of it is. The material, which is five times stronger than steel, could be used in products from bulletproof ...

Supple, light and biodegradable but stronger than steel: researchers said Monday they have succeeded in producing synthetic spider silk, one of nature's strongest materials.

The egg sac silk of the cocoon stalk of the cave spider Meta menardi is the most stretchable egg sac silk yet tested, according to a study published Feb. 8 in the open access journal PLoS ONE.

You must have heard that spider silk is stronger than steel. We all want to believe that there are wonder materials in nature that are far superior to human-made ones. But the problem with statements that sound too good to ...

(Phys.org)A team of researchers at Tsinghua University in China has found that adding graphene or carbon nanotubes to the food eaten by silkworms causes them to produce silk that is stronger than normal. In their paper ...

Spider silks, the stuff of spider webs, are a materials engineer's dream: they can be stronger than steel at a mere fraction of weight, and also can be tougher and more flexible. Spider silks also tend not to provoke the ...

(Phys.org)A biologist with the University of Zurich has discovered a species of dragonfly whose females play dead to avoid copulating with other males once her eggs have already been fertilized. In his paper published ...

The most popular varieties of teaincluding black tea, green tea, Oolong tea, white tea, and chaiall come from the leaves of the evergreen shrub Camellia sinensis, otherwise known as the tea tree. Despite tea's immense ...

Researchers at Columbia University Medical Center have created a new tool to describe the many possible ways in which a cell may develop. Rooted in the mathematical field of topology, the tool provides a roadmap that offers ...

They found it in the Illinois River near the city of Marseilles, Illinois, about 80 miles west of Lake Michigan - a strange entry point for an invasive Asian clam. The scientists who found it have no idea how it got there. ...

The formation of a human embryo starts with the fertilization of the oocyte by the sperm cell. This yields the zygote, the primordial cell that carries one copy each of the maternal and paternal genomes. However, this genetic ...

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So it sounds like, in the future, people who have surgery to repair brain damage may literally be said to have "cobwebs in the attic".

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Genetics key to lamb taste – Rural News Group

Genetic selection for taste seems to outweigh other onfarm factors such as breed, lamb gender or fat cover in the eating quality of lamb, says Grant Howie, general manager sales, Silver Fern Farms.

SFF says this in a report on research into lamb eating quality under the FarmIQ Primary Growth Partnership Programme. Based on at least 3200 consumer taste tests in New Zealand and the US in 2016, the results confirm earlier research that consumers view NZ lamb as a consistently high-quality eating product.

Howie says they had absolutely confirmed that consumers see lamb as a good quality product, so it gives us confidence that the product the farmers are producing is meeting consumer taste expectations.

Interestingly for farmers, the research did not find a significant or consistent effect on lamb eating quality from breed, lamb gender, pasture, growth rates, fat cover and marbling, butt conformation or locality, he says.

Several of these factors had minor effects, but all were outweighed by the right cut and correct ageing, he says.

This wasnt just a one-off study; there were several studies over that time. We were getting more and more information the more we tested, Howie told Rural News.

I think early on we were expecting, for example, a ram lamb effect; there is a lot of talk in the industry about that. But the more we tested it and the more thoroughly we looked at those sorts of things we couldnt see any ram lamb effect and it wasnt just a one-off study; we did several studies on that.

There is more variation in the genetics within a breed than there is one breed versus another.

AgResearch and FarmIQ have invested a lot of money in the last few years developing a SNP chip which helps identify different gene markers that can identify the markers for tenderness, low pH and marbling in lamb.

The same technology has been used in the beef industry.

Ram breeders can now use that technology to improve the genetic make-up of lambs or of rams and passed on to lambs obviously for tenderness, pH and marbling.

All the studies have confirmed that farmers are on track, and they can ensure we remain on track if the breeders use the genetic technology of the SNP chip and keep our lamb eating as good as it is now.

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Genetics key to lamb taste - Rural News Group

Young: Into the Tar Pit of Genetics – WorkCompCentral (subscription)

By Julius Young

Workers compensation in California is about to enter the tar pit of genetics.

Julius Young

Thats the take-away fromCity of Jackson v. WCAB (Christopher Rice), an April 26, 2017, ruling by the California Court of Appeals 3rd District that has been certified for publication.

Writing for the three-judge panel, (Blease, Hoch and Renner), Justice Blease finds thatapportionment may be properly based on genetics/heritability.

The case involved a claim of cumulative trauma to the neck of a 29-year-old police officer who had served for five years. This was not a long work history, but Rice alleged that repetitive bending and twisting of his head and neck on the job was the cause of his neck, shoulder, arm and hand pain.

X-rays demonstrated degenerative disc disease, and the qualified medical evaluator found that Rice had cervical radiculopathy and cervical disc disease.

The QMEs report and deposition indicated that heritability and genetics, and genetic issues, were a causative factor meriting apportionment.

In a supplemental report and in deposition,the QME cited various journal articles for the proposition that genomics is a significant causative factorin cervical spine disability.One such study claimed that the role of genetic factors in disc degeneration was as much as 75%. Another study claimed it was 73%.

The court notes that the QMEdecided to err on the side of the patient in case there was some unknown inherent weakness in the studyand thusapportioned out 49% to Rices personal history, including but not limited to the genetic cause of degenerative disease.

The award of the trial judge was based on the QMEs opinion, but the Workers' Compensation Appeals Boardpanel reversed, returning the case to the trial judge for an unapportioned award. The WCAB panel noted that:

Finding causation on applicants genetics opens the door to apportionment of disability to impermissible immutable factors ... Without proper apportionment to specific identifiable factors, we cannot rely upon Dr. [Sloane] Blairs determination as substantial medical evidence to justify apportionment 49% of applicants disability to non-industrial factors.

Rices employer appealed, and thus the case was eventually heard by the Court of Appeals panel.

After noting that there are a number of post-SB 899 cases thatuphold apportionment based on non-industrial pathological degenerative changes, the 3rd DCA states that:

We perceive no relevant distinction between allowing apportionment based on a pre-existing congenital or pathological condition and allowing apportionment based on a pre-existing degenerative condition caused by heredity or genetics.

Rice argued that the QME cannot have known his degenerative disc disease was caused by genetics because the QMEhad never developed data on his family medical history. The DCA panel states:

It was unnecessary for Dr. Blair to conduct such an analysis because her research indicated that genetics or heredity was a majority factor inallcases of degenerative disc disease."

Whether this case will be a game-changer in California workers comp remains to be seen.

The case will be appealed to the California Supreme Court, but whether itdecides to hear it is discretionary.

In the meantime, Ill make some predictions:

And there are major unknowns:

Were already in an era when some individuals are engaging their own genetic tests. Ive participated in 23andme.com, sending off a vial of my saliva. And in fact I get periodic updates about various screenings they do with my genetic material. As mapping the genome gets cheaper, will we see efforts to use that sort of data to rule in/rule out a genetic component to disability? And how scientifically sophisticated are the studies about genetic causation, anyway? This is a field that is rapidly evolving.

There are many questions to be answered. But it looks like a tar pit to me.

Julius Young is a claimants' attorney for the Boxer & Gerson law firm in Oakland. This column was reprinted with his permission from his blog,www.workerscompzone.com.

The Hartford has reported net income of $378 million for the first quarter of the year, a 17% increase from $323 million in the first quarter of 2016. Net income for commercial lines was up 3% in the quarter, to $231 million. But the commercial lines combined ratio of 96.0 was a 4.9-point increase. Read More

One of West Virginia Gov. Jim Justices family coal operations was fined $10,684 for six safety violations following the death of a worker in February. Gov. Jim Justice The state Office of Miners Health, Safety and Training fined Justice Low Seam Mining Inc. for violations discovere. Read More

The Honorable Frank R. McKay, Chairman of the Georgia State Board of Workers Compensation,

Please plan to join us for our Annual All-Day Seminar on Tuesday, May 9, 2017. We hope you find it

The Texas Department of Insurance will host its 2017 Texas Safety Summit from May 9-11 at the Hilt

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Young: Into the Tar Pit of Genetics - WorkCompCentral (subscription)

Caring Connections Hosts Talk About Genetics and Cancer and When to Consider Testing – Bangor Daily News

Thursday, May 25, 2017 6 p.m. to 7:30 p.m.

Location: Bangor YMCA, 17 Second Street, Bangor, Maine

For more information: 207-941-2808; bangory.org

On Thursday May 25th, at 6 pm, Caring Connections, a cooperative program of the Bangor YMCA and Eastern Maine Medical Center, will host a talk on genetic testing with Margaret Rieley, MD, ABMG. Dr. Rieley is a physician specializing in the role inherited genetic changes have in our health. She has been working with EMMC Cancer Care since 2014.

About 5 to 10 percent of cancers have an association with an inherited risk. At the present time testing is most commonly available for risks associated with breast, colon, melanoma, ovarian, pancreatic, prostate and uterine cancers. It is now possible to evaluate a large number of genes simultaneously through a blood sample.

When a change associated with an increased risk is identified in someone who has been diagnosed with cancer, it can help them make decisions about their care. Family members can be tested and if they carry the same gene change, screening plans can identify potential cancers at the earliest possible stage.

This presentation is open to anyone interested in learning more about this topic. For more information or to register, call Caring Connections at 941-2808 x 338.

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Caring Connections Hosts Talk About Genetics and Cancer and When to Consider Testing - Bangor Daily News

NIMH awards CMU team $7 mil for autism genetics research – CMU The Tartan Online

A team of researchers from various institutions, including some from Carnegie Mellon, working on the Autism Sequencing Consortium (ASC) project has been awarded funding from the National Institute of Mental Health (NIMH) to continue their work through 2022. The grant totals seven million dollars and will allow ASC to expand their work even further in its search for genetic markers of autism. Autism is a spectrum of mental disorders ranging from mild forms that have little to no impact on peoples lives to severe forms that prevent patients from communicating properly, getting regular jobs, or going to regular schools.

ASC was established in 2010 in order to collect, share, and analyze genetic markers from autistic patients, with the ultimate goal of finding genetic signatures correlated with autism.

In our latest project we analyze the entire genomes of 500 autism families. Thats a tremendous amount of data 3 billion base pairs per genome, says Kathryn Roeder, a professor of statistics and computational biology at Carnegie Mellon and a principal investigator of the ASC project, in a university press release.

The grant from NIMH will allow ASC to expand the sample a hundred times larger, to over 50,000 families. So far, around 29,000 individual genomes have been sequenced as part of the project, which is the largest autism sequencing study to date.

According to Bernie Devlin, another principal investigator on the project and a professor of psychiatry and genetics at the University of Pittsburghs School of Medicine, increasing the sample size is necessary to make important discoveries about autism in the long term. Another professor on the team of collaborators, Joseph D. Buxbaum, who is the G. Harold and Leila Y. Mathers Research Professor of Psychiatry, Neuroscience and Genetics and Genomic Sciences at Mount Sinai, summed up the importance of being able to increase the sample size: Historically, the number of risk genes found has steadily increased with the number of patients studied, so its important that we continue to add patients to the data set. He described the team as being thrilled to receive this grant, which he said would accelerate crucial research work.

The research work by the ASC has already produced tangible results on the path to ASCs ultimate goal of determining genetic associations for autism. It has, among other things, developed statistical tools that identified 65 different genes associated with autism risk and predicted the existence of several hundred more such markers, provided information about the possible genetic makeup of autism, and found that although some rare genetic markers can dramatically heighten the risk for autism, most genetic risks for the disorder are carried in common gene variants.

The awarding of this grant means that these findings may well be the roadmap toward finding a more comprehensive set of genetic data for autism and paving the way toward novel methods for helping autistic patients.

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NIMH awards CMU team $7 mil for autism genetics research - CMU The Tartan Online

Recommended Reading: The genetics of better beer – Engadget

You Want Better Beer? Good. Here's a Better Barley Genome Adam Rogers, Wired

The beer industry certainly isn't hurting for money these days, but a group of scientists are trying to figure out how to make the beverage even better. They're doing so by breaking down the genome of barley, a key ingredient in the brewing process that that turns starch into sugar for yeast to transform into alcohol during fermentation. Wired has the story of how the geneticists could be on the way to improving suds for all of us to enjoy.

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Recommended Reading: The genetics of better beer - Engadget