Category Archives: Genetics

Veritas Genetics acquires Curoverse to enable AI push … – MobiHealthNews

Veritas Genetics,a leader in whole-genome sequencing, has acquired computing and bio-informatics firm Curoverse for an undisclosed amount. Curoverse provides infrastructure for life sciences companies to manage large datasets, including an open source platform called Arvados.

The acquisition isn't totally unexpected, since the two companies have a strong existing relationship. Not only were both companies cofounded by Harvard professor Dr. George Church, but Veritas and Curoverse have worked together on Harvard's Personal Genome Project.

"There are very few companies in the world that have the expertise and experience of more than a decade in aggregating genomic data and enabling machine learning," Church said in a statement. "I am pleased to see these two teams work even closer together. They not only share a common technological goal but also a commitment to making this invaluable information actionable and accessible."

Veritas offers whole genome sequencing for $999 and delivers results to customers' smartphones. The goal of the acquisition is to use Curoverse's big data expertise to enable Veritas to more easily use artificial intelligence and machine learning to extract insight from that genomic data.

"At Veritas, we are building a platform to sequence, and more importantly, interpret hundreds of thousands, and eventually millions, of human genomes per year," Veritas CEO Mirza Cifric said in a statement."This will only be possible by deploying AI and machine learning at scale, which requires data that is produced, stored and managed in a standardized way. Curoverse excels at this capability. Working closely together will not only benefit Veritas, but the industry as a whole."

Through initiatives like Arvados and the Common Workflow Language project, Curoverse has been involved in efforts to standardize the way genomic data is produced and aggregated. Veritas intends to continue supporting the goal of open standards for genomic data.

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Veritas Genetics acquires Curoverse to enable AI push ... - MobiHealthNews

Genetic counseling field to rapidly expand – CNBC

As a college student at the University of Mount Union in Alliance, Ohio, Megan McMinn studied biology, hoping to one day become a physician's assistant.

But a desire to interact even more with patients led her down a different path in genetic counseling.

"What genetic counseling gave me was a good split between patient care and the hard science research end of things," McMinn said.

At Geisinger Health System in Danville, Pa., McMinn sees about six patients a day, working in oncology. Soon, she'll move onto a cardiology clinic, helping to identify genetic risks for individuals and potentially their families. The system currently has 25 genetic counselors on staff, but anticipates needing hundreds more as genetic testing becomes cheaper and more accessible.

The trend extends far beyond Geisinger, as the field has grown dramatically in the past decade, touching all aspects of health-care as medicine becomes more personalized.

"Genetics permeates everythingthere won't be enough genetic counselors to see every patient who gets genetic information," said Mary Freivogel, president of the National Society of Genetic Counselors (NSGC).

As a result, the Bureau of Labor Statistics projects the occupation will grow by 29 percent through 2024, faster than the average for all occupations

"I think [a genetic counselor] will become a key member of the team, discussing with patients and families what to do next, how to figure out how the genome is going to interact with your lifestyle and make decisions about what you want to do medically," said Dr. David Feinberg, president and CEO of Geisinger Health System.

Genetic counselors typically receive a bachelor's degree in biology, social science or a related field, and then go on to receive specialized training. Master's degrees in genetic counseling are offered by programs accredited by the Accreditation Council for Genetic Counseling, offered at some 30 schools in the U.S. and Canada, according to the NSGC.

Those who want to be certified as genetic counselors must obtain a master's degree from an accredited program, but do not need to be doctors.

The NSGC is also working to recruit new talent by doing outreach in middle and high schools to let younger students know the field is an option in the future. Pay is competitive as wellon average, counselors make around $80,000 a year, but that can increase up to $250,000 annually depending on specialty, location and expertise, Freivogel said.

Health insurance often pays for genetic counseling, and for genetic testing when recommended by a counselor or doctor. However, it's important to check with insurers before scheduling any tests as coverage levels vary. Cost also varies greatly, for example, as multi-gene cancer panels can range from $300 to $4,000 depending on the type of test, the lab used and whether the patient goes through his or her insurance or pays out of pocket.

And while at-home tests like 23andMe are typically less expensive, those taking them still need to see a genetic counselor to explain their results.

Part of the reason more counselors will be needed in the future at Geisinger is because the health system is home to the MyCode Community Health Initiative, one of the largest biobanks of human DNA samples of its kind, according to Amy Sturm, director of Cardiovascular Genomic Counseling at Geisinger. The project has consent from more than 150,000 patients to participate in having their entire DNA code sequenced and synced with their electronic medical records, to look for new causes of disease and different ways to treat conditions.

"We are figuring out and researching the best way to deliver this information back to our patients and also back to families with the ultimate goal of preventing disease and improving the healthcare system," Sturm said.

Keeping up with the latest in genomics, where new developments happen almost daily, can be a challenge. Yet counselors like McMinn say the ability to impact more than just the patient by studying the genome makes the job well worth it.

"We are able to bring to the forefront the fact that we're not just taking care of the patient, but we're taking care of the entire family," McMinn said.

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Genetic counseling field to rapidly expand - CNBC

Veritas Genetics Scoops Up an AI Company to Sort Out Its DNA – WIRED

Genes carry the information that make you you. So it's fitting that, when sequenced and stored in a computer, your genome takes up gobs of memoryup to 150 gigabytes. Multiply that across all the people who have gotten sequenced, and you're looking at some serious storage issues. If that's not enough, mining those genomes for useful insight means comparing them all to each other, to medical histories, and to the millions of scientific papers about genetics.

Sorting all that out is a perfect task for artificial intelligence. And plenty of AI startups have bent their efforts in that direction. On August 3, sequencing company Veritas Genetics bought one of the most influential: seven-year old Curoverse. Veritas thinks AI will help interpret the genetic risk of certain diseases and scour the ever-growing databases of genomic, medical, and scientific research. In a step forward, the company also hopes to use things like natural language processing and deep learning to help customers query their genetic data on demand.

It's not totally surprising that Veritas bought up Curoverse. Both companies spun out of George Church's prolific Harvard lab. Several years ago, Church started something called the Personal Genomics Project, with the goal of sequencing 100,000 human genomesand linking each one to participants' health information. Veritas' founders helped lead the sequencing partstarting as a prenatal testing service and launching a $1,000 full genome product in 2015while Curoverse worked on academic strategies to store and sort through all the data.

But more broadly, genomics and AI practically call out for one another. As a raw data format, a single person's genome takes up about 150 gigabytes. How!?! OK so, yes, storing a single base pair only takes up around two bits. Multiply that by roughly 3 billionthe total number of base pairs in your 23 chromosome pairsand you wind up with around 750 megabytes. But genetic sequencing isn't perfect. Mirza Cifric, Veritas Genetics cofounder and CEO, says his company reads each part of the genome at least 30 times in order to make sure their results are statistically significant. "And you gotta keep all that data, so you can refer back to it over time," says Cifric.

That's just storage. "Everything after that is going to specific areas and asking questions: Theres a variant at this location, a substitution of this base, a deletion here, or multiple copies of this same gene here, here, and here," says Cifric. Now, interpret all that. Oh, and do it across a thousand, hundred thousand, or million genomes. Querying all those genetic variations is how scientists get leads to find new drugs, or figure out how existing drugs work differently on different people.

But cross-referencing all those genomes is just the beginning. Curoverse, which was focusing on projects to store and sort genomic data, also has its work cut out for it in searching through the 6 millionand countingjargon-filled academic papers detailing gene behavior, including visual information found in charts, graphs, and illustrations.

That's pretty ambitious. Natural language processing is one of the stickiest problems in AI. "Look, I am a computer scientist, I love AI and machine learning, and no amount of coding makes sense to solve this," says Atul Butte, the director of UCSF's Institute of Computational Health Sciences. At his former job at Stanford University, Butte actually tried to do the same thinguse AI to dig through genetics research. He says in the end, it was way cheaper to hire people to read the papers and input the findings into his database manually.

But hey, never say never, right? However they accomplish it, Veritas wants to move past what companies like 23andMe and Color offer: genetic risk based on single-variant diseases. Some of America's biggest dangers come from diseases like diabetes and heart disease, which are activated by interactions between multiple genesin addition to environmental factors like diet and exercise. With AI, Cifric believes Veritas will be able to not only dig up these various genetic contributors, but also assign each a statistical score showing how much it contributes to the overall risk.

Again, Butte hates to be a spoilsport, but ... there's all sorts of problems with doing predictive diagnostics with genetic data. He points to a 2013 study that used polygenic testing to predict heart disease using the Framingham Heart Study dataabout as good as you can get, when it comes to health data and heart disease. "They authors showed that yes, given polygenic risk score, and blood levels, and lipid levels, and family history, you can predict within 10 years if someone will develop heart disease," says Butte. "But doctors could do the same thing without using the genome!"

He says the problems come down to just how messy it is trying to square up all the different research on each gene alongside the environmental risks, and all the other compounding factors that come up when you try to peer into the future. "Its been the holy grail for a long time, structured genome reporting," says Butte. Even attempts to get researchers to write and report data in a standard, machine-readable way, have fallen flat. "You get into questions that never go away. One researcher defines autism different from another one, or high blood pressure, or any number of things," he says.

Butte isn't a total naysayer. He says partnerships like the one between Veritas and Curoverse are becoming more commonlike the data processing deal between genetic sequencing giant Illumina and IBM Watsonbecause there's a clear need for new computing methods in this area. "You want to get to a point where you are developing stuff that improves clinical care," he says.

Or how about directly to the owners of the genomes? Cifric hopes the merger will improve the consumer experience of using genetic data, even seamlessly integrating it into daily life. For instance, linking your genome and health records to your digital assistant. Alexa, should I eat this last piece of pizza? Maybe you should skip it, depending on your baseline genetic risk for cholesterol and latest blood test results. Diet isn't the only area where genomics could help improve your day to day life. Some people are more or less sensitive to over the counter drugs. A quick query might tell you whether you should take a little less Tylenol than is recommended.

Cifric thinks this acquisition could position Veritas as a global powerhouse of genomic data. "Apple recently announced that they had shipped 41 million iPhones in a quarter, right? I think in not too distant future, well be doing 41 million genomes in a quarter," he says. That might seem ambitious, given that the cost to consumers is nearly $1,000. But that cost is bound to come down. And artificial intelligence will make paying for the genome a matter of common sense.

This story has been updated to reflect that the company is named Veritas Genetics, not Veritas Genomics.

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Veritas Genetics Scoops Up an AI Company to Sort Out Its DNA - WIRED

You’re getting a DNA test — start-up Clear Genetics is building chatbots to help you understand the results – CNBC

George Frey | AFP | Getty Images

A lab technician at Myriad Genetics in Salt Lake City, Utah.

Thousands of people are getting genetic tests, for everything from their cancer risk to their likelihood of passing on a disease to a child.

But many doctors aren't adequately trained to interpret these results, or tell patients how to act on them. And genetic counselors -- who do have that knowledge -- are in short supply. There are only about 4,000 genetic counselors in the country today. That's one for every 80,000 Americans. That means some patients have to wait months to get a consultation.

Start-up Clear Genetics, which launches this week after raising $2.5 million in financing, is trying to make genetic expertise more widely available.

The start-up has developed a conversational chatbot to guide a user through their results, collect information and review options for genetic testing, and answer questions about things like whether the test will be covered by insurance. If there's a need for additional support, the patient can then schedule a consultation with a human expert via video or in-person.

"We're finding that it's working really well with patients," said Moran Snir, Clear Genetics' CEO, who was previously a software engineer with the Israeli military.

Clear Genetics is working with several large health systems in the United States to test out a beta version of its product.

"I think this is a very good use for AI," said David Ledbetter, executive vice president and chief scientific officer at hospital network Geisinger Health System, in an interview with CNBC.

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You're getting a DNA test -- start-up Clear Genetics is building chatbots to help you understand the results - CNBC

UNH research: Genetics mechanism preventing kidney injury after severe dehydration – Foster’s Daily Democrat

DURHAM Millions of people die every year from dehydration as a result of exposure and illness. In humans, even the most minor dehydration can compromise the kidneys causing lifelong, irreparable issues or even death. However, some animals living in desert environments are able to survive both acute and chronic dehydration. While these animals, like cactus mice, have evolved over time to deal with environmental stressors like dehydration, researchers at the University of New Hampshire have found its not the physical makeup that is helping them survive, but rather their genetic makeup.

Initially, we thought that maybe their kidneys are structurally different from people, but theyre not, said Matt MacManes, assistant professor of genome enabled biology at UNH and lead author of the study. However, when exposed to acute dehydration, no kidney injury was apparent, which would definitely be the case for humans exposed to similar levels of dehydration, suggesting their genes may be whats preventing widespread kidney damage.

The kidney is the canary in the coal mine when it comes to dehydration, continues MacManes. The exciting outcome of this research is that the molecular toolkit of the cactus mouse has orthologues, or related genes, in humans. These provide the potential for development of drugs or other therapies that could help protect the human body from the damages of dehydration. Such a response could be extremely valuable in a wide variety of situations for people with renal failure, where water is severally limited due to geography or possibly global climate change, for troops deployed in the desert, and perhaps even in space travel.

To understand how desert-adapted cactus mice (Peromyscus eremicus) survive, the study recently published in the American Journal of Renal Physiology outlines how the researchers modeled a desert-like condition. The mice that went without water for 72 hours lost on average 23 percent of their body weight, which would be fatal for humans. Even though dehydrated, the mice continued to be active, eat, and interact normally. Researchers analyzed several other factors including serum electrolytes (sodium, calcium, bicarbonate ion) as well as blood urea nitrogen (BUN) and creatinine. While both were slightly elevated, gene-based biomarkers for kidney injury, were not, which suggests kidney injury is not occurring.

Further analysis found genes that are important in modulating electrolytes were very active, as were genes responsible for maintaining kidney blood pressure.

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UNH research: Genetics mechanism preventing kidney injury after severe dehydration - Foster's Daily Democrat

Madhuri Hegde Elected to ACMG Foundation for Genetic, Genomic Medicine Board – India West

The ACMG Foundation for Genetic and Genomic Medicine announced Aug. 4 that Indian American Madhuri Hegde of Waltham, Mass.-based PerkinElmer Inc. was elected to its board of directors.

"We are delighted that Dr. Hegde has been elected to the ACMG Foundation Board of Directors. She has vast experience in genetic and genomic testing and is a longtime member of the college and supporter of both the college and the foundation," said Dr. Bruce R. Korf, president of the ACMG Foundation, in a statement.

Hegde, who will serve a two-year renewable term, joined PerkinElmer in 2016 as vice president and chief scientific officer of global genetics laboratory services. She is also an adjunct professor of human genetics in Emory Universitys human genetics department.

Previously, Hegde served as the executive director and chief scientific officer at Emory Genetics Laboratory in Atlanta, Ga.; professor of human genetics and pediatrics at Emory University; and assistant professor at Baylor College of Medicines Department of Human Genetics in Houston, Texas.

Additionally, Hegde has served on a number of scientific advisory boards for patient advocacy groups including Parent Project Muscular Dystrophy, Congenital Muscular Dystrophy and the Neuromuscular Disease Foundation.

She earned her doctorate from the University of Auckland in Auckland, New Zealand, and completed her postdoctoral fellowship in molecular genetics at Baylor College of Medicine. She also holds a masters from the University of Mumbai in India.

The foundation, a national nonprofit dedicated to facilitating the integration of genetics and genomics into medical practice, is the supporting educational foundation of the American College of Medical Genetics and Genomics.

Board members are active participants in serving as advocates for the foundation and for advancing its policies and programs.

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Madhuri Hegde Elected to ACMG Foundation for Genetic, Genomic Medicine Board - India West

Genetics expert discusses creating ground rules for human germline editing – Medical Xpress

A Stanford professor of genetics discusses the thinking behind a formal policy statement endorsing the idea that researchers continue editing genes in human germ cells.

A team of genetics experts has issued a policy statement recommending that research on editing human genes in eggs, sperm and early embryos continue, provided the work does not result in a human pregnancy.

Kelly Ormond, MS, professor of genetics at the Stanford School of Medicine, is one of three lead authors of the statement, which provides a framework for regulating the editing of human germ cells. Germ cells, a tiny subset of all the cells in the body, give rise to eggs and sperm. Edits to the genes of germ cells are passed on to offspring.

The statement, published today in the American Journal of Human Genetics, was jointly prepared by the American Society for Human Genetics and four other human genetics organizations, including the National Society of Genetic Counselors, and endorsed by another six, including societies in the United Kingdom, Canada, Australia, Africa and Asia.

Germline gene editing raises a host of technical and ethical questions that, for now, remain largely unanswered. The ASHG policy statement proposes that federal funding for germline genome editing research not be prohibited; that germline editing not be done in any human embryo that would develop inside a woman; and that future clinical germline genome editing in humans not proceed without a compelling medical rationale, evidence supporting clinical use, ethical justification, and a process incorporating input from the public, patients and their families, and other stakeholders.

Ormond recently discussed the issues that prompted the statement's creation with writer Jennie Dusheck.

Q: Why did you think it was important to issue a statement now?

Ormond: Much of the interest arose a couple of years ago when a group of researchers in China did a proof of principle study demonstrating that they could edit the genes of human embryos.

The embryos weren't viable [meaning they could not lead to a baby], but I think that paper worried people. Gene editing in human germ cells is not technically easy, and it's not likely to be a top choice for correcting genetic mutations. Still, it worried us that somebody was starting to do it.

We've been able to alter genes for many years now, but the new techniques, such as CRISPR/Cas9, that have come out in the past five years have made it a lot easier, and things are moving fast. It's now quite realistic to do human germline gene editing, and some people have been calling for a moratorium on such work.

Our organization, the American Society of Human Genetics, decided that it would be important to investigate the ethical issues and put out a statement regarding germline genome editing, and what we thought should happen in the near term moving forward.

As we got into the process, we realized that this had global impact because much of the work was happening outside of the United States. And we realized that if someone, anywhere in the world, were moving forward on germline genome editing, that it was going to influence things more broadly. So we reached out to many other countries and organizations to see if we could get global buy-in to the ideas we were thinking about.

Q: Are there regulations now in place that prevent researchers from editing human embryos that could result in a pregnancy and birth?

Ormond: Regulations vary from country to country, so research that is illegal in one country could be legal in another. That's part of the challenge and why we thought it was so important to have multiple countries involved in this statement.

Also, since 1995 the United States has had regulations against federal funding for research that creates or destroys human embryos. We worry that restricting federal funding on things like germline editing will drive the research underground so there's less regulation and less transparency. We felt it was really important to say that we support federal funding for this kind of research.

Q: Is germline editing in humans useful and valuable?

Ormond: Germline editing doesn't have many immediate uses. A lot of people argue that if you're trying to prevent genetic disease (as opposed to treating it), there are many other ways to do that. We have options like prenatal testing or IVF and pre-implantation genetic testing and then selecting only those embryos that aren't affected. For the vast majority of situations, those are feasible options for parents concerned about a genetic disease.

The number of situations where you couldn't use pre-implantation genetic diagnosis to avoid having an affected child are so few and far between. For example, if a parent was what we call a homozygote for a dominant condition such as BRCA1 or Huntington's disease, or if both members of the couple were affected with the same recessive condition, like cystic fibrosis or sickle cell anemia, it wouldn't be possible to have a biologically related child that didn't carry that gene, not unless germline editing were used.

Q: What makes germline editing controversial?

Ormond: There are families out there who see germline editing as a solution to some genetic conditions. For example, during a National Academy of Sciences meeting in December of 2015, a parent stood up and said, "I have a child who has a genetic condition. Please let this move forward; this is something that could help."

But I also work in disability studies, as it relates to genetic testing, and there are many individuals who feel strongly that genetic testing or changing genes in any way makes a negative statement about them and their worth. So this topic really edges into concerns about eugenics and about what can happen once we have the ability to change our genes.

Germline gene editing impacts not just the individual whose genes are edited, but their future offspring and future generations. We need to listen to all of those voices and try to set a path that takes all of them into account.

That's a huge debate right now. A lot of people say, "Let's not mess around with the germline. Let's only edit genes after a person is born with a medical condition." Treating an existing medical condition is different from changing someone's genes from the start, in the germline, when you don't know what else you're going to influence.

Q: There was a paper recently about gene editing that caused mutations in excessive numbers of nontargeted genes, so called "off-target effects." Did that result surprise you or change anything about what you were thinking?

Ormond: I think part of the problem is that this research is moving very fast. One of our biggest challenges was that you can't do a good ethical assessment of the risks and benefits of a treatment or technology if you don't know what those risks are, and they remain unclear.

We keep learning about potential risks, including off-target mutations and other unintended consequences. Before anyone ever tries to do germline gene editing in humans, it is very important that we do animal studies where the animals are followed through multiple generations, so that we can see what happens in the long term. There's just a lot that we don't know.

There are so many unknowns that we don't even know what guidelines to set. For example, what's an appropriate new mutation level in some of these technologies? What is the risk we're willing to take as we move forward into human studies? And I think those guidelines need to be set as we move forward into clinical trials, both in somatic cells [cells of the body, such as skin cells, neurons, blood cells] and in germline cells.

It's really hard because, of course, we're talking about, for the most part, bad diseases that significantly impact quality of life. So if you're talking about a really serious disease, maybe you're willing to take more risk there, and these new mutations aren't likely to be as bad as the genetic condition you already have. But we don't know, right?

We haven't had any public dialogue about any of this, and that's what we need to have. We need to find a way to educate the public and scientists about all of these issues so people can have informed discussions and really come together as this moves forward, so that were not in that reactive place when it potentially becomes a real choice.

And that goes back to your first question, which is why did we feel like we needed to have a statement now? We wanted to get those conversations going.

Explore further: 11 organizations urge cautious but proactive approach to gene editing

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Genetics expert discusses creating ground rules for human germline editing - Medical Xpress

Invitae To Acquire Good Start Genetics And CombiMatrix – Seeking Alpha

Quick Take

Genetic information company Invitae (NVTA) has announced agreements to acquire two companies, privately-held Good Start Genetics and CombiMatrix (CBMX).

The target companies offer a range of prenatal and post-pregnancy genetic-based screening services for clinicians and their patients.

Invitae is acquiring these two firms as part of an ongoing strategy to create a genetic information cafeteria that provides a wide range of diagnostics options.

Target Companies

Cambridge, Massachusetts-based Good Start was founded in 2008 to develop prenatal screening tests for persons wishing to have children.

Management is headed by CEO Jeffrey Luber, who has been with the company since 2014 and was previously CEO of EXACT Sciences (EXAS) during its turnaround and recapitalization. He was also co-founder and Vice President Corporate Development at SynapDx.

Below is a brief overview video about GoodStarts carrier screening:

(Source: Motivity Video)

Good Start has developed three types of tests:

Good Start had raised $32 million in investment from top tier investors such as OrbiMed, Safeguard Scientifics (SFE) and SV Health Investors.

CombiMatrix, which held its IPO in 2002, provides miscarriage analysis and advanced DNA testing for in-vitro fertility screening and determining genetic abnormalities involved in miscarriage & pediatric developmental disorders.

Prior to the acquisition announcement, CombiMatrix had a market capitalization of approximately $14.4 million.

Acquisition Terms and Rationale

For Good Start, Invitae intends to pay cash of $18.3 million, 1.65 million shares of Invitae stock ($15 million worth) and the assumption of Good Starts obligations, for a total transaction value of approximately $39.3 million.

For CombiMatrix, Invitae intends to pay up to $27 million in NVTA stock for CombiMatrix stock, RSUs and in-the-money options, plus up to $6 million in NVTA stock for Series F warrants, which were originally sold in 2016 as part of an $8 million financing. If holders of less than 90% of outstanding Series F warrants tender, then Invitae has the option to terminate the acquisition.

Notably, the deal announcement states that the cost to Invitae of those warrants may increase as follows,

To the extent the Series F warrants are not exchanged and are either exercised or assumed as part of the acquisition, the consideration payable by Invitae could increase by up to approximately $15.0 million in shares of Invitae, or approximately 1.58 million shares, subject to adjustment based upon a net cash calculation for CombiMatrix at the time of the acquisition.

Thus, Invitae is on the hook for up to an additional $15 million in stock consideration for CombiMatrix pertaining to what the Series F warrant holders choose to do.

So, to sum up both transactions, Invitae is spending $18.3 million in cash, issuing $48 million worth of stock and is potentially on the hook for an additional $15 million in stock, for a total combined deal value of $81.3 million.

Invitaes most recent 10-Q for the quarter ended March 31, 2017, indicated cash and marketable securities of $96.7 million and total liabilities of $70.3 million, so it appears the company has ample resources to pay for these two acquisitions since they are mostly paid for with stock.

The rationale for Invitaes moves to acquire both companies is to expand its offerings to families both before pregnancy and after childbirth or miscarriage.

This in turn is part of Invitaes strategic approach of providing genetic information to individuals throughout their life span.

As Invitae CEO Sean George stated in the deal announcement,

This is a transformative moment for Invitae, for our industry, and importantly for patients. By acquiring Good Start and CombiMatrix, Invitae intends to create the industry's first comprehensive genetic information platform providing high-quality, affordable genetic information coupled with world-class clinical expertise to inform healthcare decisions throughout every stage of an individual's life. We believe the strength of our existing platform, strategic acquisitions like these and our network of partners will fuel continued growth and further establish Invitae as a leading genetic information service provider.

Invitae management hasnt been shy about acquiring companies as it sees fit. I previously wrote on the companies last acquisition in June in my article, Invitae Acquires CancerGene Connect for Patient Family History Collection.

Invitae appears to be assembling a veritable cafeteria of options for genetic information for consumers, healthcare providers and other market participants.

Investors like what they see so far, although Invitaes stock in the past year has largely moved within a range of $6.00 per share to $11.00 per share. The stock is up 7.75% on the current two acquisition deal announcement:

(Source: Seeking Alpha)

It is likely that both acquisitions will be a drag on EPS in the near term, but promise to increase Invitaes breadth of service offerings as management appears to intend it to become a one-stop shop for genetic information.

The big question is whether or not that is a viable model in the nascent market for genetic information. Acquiring companies on the cheap certainly helps, although Im not convinced that these acquisitions are necessarily cheap.

So, the jury is out, and management will need to prove the value of these transactions over the next 12 to 18 months.

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Disclosure: I/we have no positions in any stocks mentioned, and no plans to initiate any positions within the next 72 hours.

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Invitae To Acquire Good Start Genetics And CombiMatrix - Seeking Alpha

MSU genetics and evolution study receives $1.2 million NSF grant – Mississippi State Newsroom

Contact: Sarah Nicholas

STARKVILLE, Miss.Mississippi State is part of a new research collaboration sponsored by the National Science Foundation in which a colorful tropical butterfly is helping researchers investigate genetics and evolution.

Scientists at the Starkville land-grant university and the University of Puerto RicoRio Piedras will be studying the relationship in organisms between genetic material, or genotype, and physical characteristics due to gene expression and environmental influences, or phenotype.

Brian Counterman, an associate professor of biological sciences, leads the MSU research team. Ryan Range, assistant professor of biological sciences, as well as Jovonn Hill and Federico Hoffman, both assistant professors in the Department of Biochemistry, Molecular Biology, Entomology and Plant Pathology, also are part of the study that will examine genotype-phenotype relationships using color patterns of the Heliconius butterfly.

More than $1.2 million is being provided through the NSFs Established Program to Stimulate Competitive Research, known as EPSCoR, for the MSU collaboration over four years.

National Science Foundation leaders have noted how the genotype-to-phenotype relationship has significant societal and economic implications across scientific fields and areas of industry such as medicine, agriculture and biotechnology.

According to EPSCoR Head Denise Barnes, Over the past several decades, scientists and engineers have made massive strides in decoding, amassing and storing genomic data. For that reason, the federal agency is committed to providing the U.S. scientific community, including MSU, with resources for future discoveries that may help improve food-crop yields, better predictions for human disease risk and new drug therapies.

Angus Dawe, head of MSUs Department of Biological Sciences, said that in addition to helping raise our profile nationally, the project will make possible extensive support for training students and extend the impact of work at MSU to other regions.

This award will support foundational work at the cutting edge of genetics and evolution, Dawe said.

As Counterman recounted, groundbreaking 19th century naturalist Charles Darwin (1809-82) considered Heliconius to be the most striking example of natural selection in the wild because it has the ability to work with other butterflies to train predators that they are toxic.

When species work together, more individual butterflies survive and produce offspring, which is the process of natural selection at its best, Counterman observed.

Counterman said the new inquiry actually is an extension of a project we were already working on with Puerto RicoRio Piedras. When we finished in February, we decided to take it a step further and write a proposal for this grant.

Dawe said the MSU department is proud of its facultys continued success in obtaining research support from a variety of agencies, even as federal funding rates have been cut dramatically. To be able to receive awards in this climate is further evidence that biological sciences at Mississippi State competes with the very best programs anywhere, he emphasized.

Counterman said he and fellow team members are excited about opportunities to provide highly specialized genomic training in both Mississippi and Puerto Rico.

An MSU faculty member since 2010, Counterman is a biology doctoral graduate of Duke University who earlier earned a bachelors degree in ecology and evolution at the University of California, Santa Barbara.

Dawe said that research proposals for national grants typically involve a tremendous amount of work. He expressed his departments deep appreciation for administrative support and scientific collaborations with campus colleagues in the College of Arts and Sciences, the Department of Biochemistry, Molecular Biology, Entomology and Plant Pathology in the College of Agriculture and Life Sciences, as well as the offices of Sponsored Projects and Research and Economic Development.

We are extremely grateful for their support, without which the submission of grant proposals could not happen, he said.

For details about EPSCoRs ongoing mission, visit http://www.nsf.gov/od/oia/programs/epscor.

MSUs College of Arts and Sciences includes more than 5,000 students, 300 full-time faculty members, nine doctoral programs and 25 academic majors offered in 14 departments. It also is home to the most diverse units for research and scholarly activities, including the Department of Biological Sciences.

Research expenditures in the humanities are also an important part of Mississippi States overall research portfolio. Additionally, the NSF has ranked MSU among the top 25 for research expenditures in the social sciences. For more information on MSUs College of Arts and Sciences, visit http://www.cas.msstate.edu. The Department of Biological Sciences is online at http://www.biology.msstate.edu.

MSU is Mississippis leading university, also available online at http://www.msstate.edu.

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MSU genetics and evolution study receives $1.2 million NSF grant - Mississippi State Newsroom

23andMe to launch study exploring role of genetics in depression, bipolar disorders – MobiHealthNews

Personal genetics company 23andMe will be teaming up with the Milken Institute, a think tank, and pharmaceutical company Lundbeck to drive enrollment for a genetic study designed to grasp the underlying biology of major depressive and bipolar disorders.The study will combine cognitive assessments with genetic data and survey responses to assess how genes influence brain processes -- such as attention, decision-making and visual perception -- in individuals who live with these serious mental health conditions.In the United States alone, more than 16 million people are living with a major depressive disorder, according to the National Institute of Mental Health, while nearly 6 million Americans suffer from bipolar disorder. The causes of these disorders are largely unknown, but there are clues: research from the National Alliance on Mental Illness, for example, suggests major depressive and bipolar disorders are caused by a combination of genetic, biological and environmental factors. Other studies back up the hypothesis that theres a genetic component involved.In August 2016 a landmark study was published by 23andMe, Massachusetts General Hospital and Pfizer, detailing the scientific connection between genetics and depression, said Anna Faaborg, Research Communities manager at 23andMe. In that study, we identified 15 genetic regions that were linked to depression. However, even with recent scientific advancements, more research is needed to help accelerate our understanding of these conditions and drive medical discoveries forward. We want to expand on the genetic component, looking at additional phenotypic factors of depression and bipolar, to hopefully gain a more holistic understanding of these diseases.To conduct this research, 23andMe intends to recruit 15,000 people with major depressive disorder and 10,000 people with bipolar disorder. The study is open to anyone aged 18 to 50 who has been diagnosed with major depressive disorder or bipolar disorder, has been prescribed medication to treat his/her condition, lives in the United States and has access to the internet through a desktop or laptop computer.This study is the first to combine data from genetics, cognitive tests and online surveys at this scale, said Faaborg. The hope is to gain a greater understanding of how genetics is related to brain functions such as attention, decision-making and reaction time. This knowledge of the biological underpinnings of disease could ultimately inform the development of novel, disease-modifying therapies.As part of the study, consenting participants will receive the 23andMe Personal Genome Service at no cost, including more than 75 personalized genetic reports about their health, traits and ancestry. Theyll provide a saliva sample for DNA genotyping, and then complete nine monthly online cognitive assessment sessions each lasting between 10-30 minutes. Participants de-identified data will be analyzed for clues as to how genetics and environmental factors combine to impact their brain function and behavior.Participants will receive regular updates about the progress of the study via email or newsletters. If there is a publishable result from the study, 23andMe will publish that information in a peer-reviewed journal and make it open access for all those interested in learning about the findings.At this early stage, we cannot anticipate where the data will lead us or exactly which analyses will be performed, said Faaborg.The study will build on 23andMes body of research in mood disorders. Its launch furthers the companys genetic discovery efforts with research collaborations already established in Parkinsons disease, lupus and inflammatory bowel disease, and more than 75 peer-reviewed papers published in scientific journals

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23andMe to launch study exploring role of genetics in depression, bipolar disorders - MobiHealthNews