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Jeffrey Hawkins of Illumina is Elected to the Board of ACMG Foundation for Genetic and Genomic Medicine – PR Newswire (press release)

Posted: April 28, 2017 at 12:48 am

For the decade prior to GenMark, Hawkins served in various positions of increasing responsibility across R&D, sales, marketing and manufacturing in the clinical diagnostics field for Hologic, Third Wave Technologies and Abbott Laboratories. He holds a BA in Chemistry with honors from Concordia University and an MBA from Keller Graduate School of Management.

“We are excited to welcome Jeff Hawkins to the ACMG Foundation Board of Directors. His experience in the application of genomic technologies in the healthcare arena will be a great asset in guiding Foundation initiatives in genomic medicine,” said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

The complete list of the ACMG Foundation board of directors is at

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics’ mission to “translate genes into health” by raising funds to attract the next generation of medical geneticists and genetic counselors, to sponsor important research, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support this great cause, please visit or contact us at [email protected] or 301-718-2014.

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SOURCE American College of Medical Genetics and Genomics

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Jeffrey Hawkins of Illumina is Elected to the Board of ACMG Foundation for Genetic and Genomic Medicine – PR Newswire (press release)

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Exercise can help offset effects of ‘fat gene,’ study finds – ABC News

Posted: April 28, 2017 at 12:47 am

Doctors have long known that genetics can predispose some people to gain weight despite a healthy lifestyle while others seemingly never gain an ounce no matter how much they eat. A new study sheds light on how people can counteract their genetic makeup, even if it’s in their DNA to put on more weight than others.

Researchers from University of North Carolina Chapel Hill, the University of Copenhagen and other institutions conducted a meta-analysis examining 60 past genetic studies to see if physical activity could mitigate the effects a genetic predisposition to weight gain.

“Decline in daily physical activity is thought to be a key contributor to the global obesity epidemic,” the authors wrote. However, they explained that genetic make-up may also play a role in weight gain for people who are not physically active.

They screened for 2.5 million genetic variants in 200,452 adults and also separated the subjects between those who were physically active — about 77 percent — and those who were physically inactive, about 23 percent. The researchers then looked at different markers that would indicate if a person was overweight including their body-mass index, waist circumference and hip-to-waist ratio.

They found those with a genetic variation that predisposed them to gain weight — called an FTO gene — had the ability counteract the effects that gene through exercise. By looking at the data they found that those with the FTO gene who were physically active were able to reduce the weight-gain effects associated with the gene by about 30 percent.

Dr. Goutham Rao, chairman of Family Medicine and Community Health at University Hospitals Cleveland Medical Center, said this type of research is key in helping patients better understand their weight and health.

“Despite that sort of bad luck of having a genetic predisposition to obesity if you are physically active … you’re not going to reduce risk of obesity entirely but you reduce it significantly,” Rao said.

The mechanism that leads to people with FTO to be predisposed to gain weight is still not fully understood, but Rao said it’s key to give people encouragement that taking healthy steps has an effect even if they haven’t reached their goal weight.

“The message is to be sympathetic,” Rao said. Explaining he tells frustrated patients, “if you weren’t doing your best you would weigh a lot more and be much less healthy.”

Dr. Kevin Niswender, associate professor of medicine, molecular physiology and biophysics at Vanderbilt University Medical Center, said the study took on the “really interesting question” of if people can counteract their genetics through their lifestyle.

“This study definitively confirms that lifestyle has an impact,” he said.

During their research the team also discovered 11 new genetic variants that likely predispose a person to weight gain and they said more may be found through similar studies.

“In future studies, accounting for physical activity and other important lifestyle factors could boost the search for new obesity genes,” said Mariaelisa Graff of the University of North Carolina at Chapel Hill, the lead author of the study. “To identify more genes whose effects are either dampened or amplified by physical activity, we need to carry out larger studies with more accurate measurement of physical levels.”

Niswender said finding new variants that indicate predisposition for weight gain can help give a better understanding of the complex mechanisms behind obesity.

“For a long time we’ve been searching for this gene, the gene that causes obesity and it’s just not like that,” Niswender.”there are a bunch of genes that cause obesity and the effect of each gene variant is really quite small.”

Graff said more study should need to be done to get more accurate measurements of the participants’ physical activity. The researchers classified those as having a sedentary job, commute and leisure time as “inactive” while everyone else was declared physically active. Additionally, the study was done primarily in people of European descent, so the findings may not be be easily extrapolated to other groups.

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Exercise can help offset effects of ‘fat gene,’ study finds – ABC News

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Stem cells edited to fight arthritis – Washington University School of Medicine in St. Louis

Posted: April 28, 2017 at 12:47 am

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Goal is vaccine that targets inflammation in joints

Using CRISPR technology, a team of researchers led by Farshid Guilak, PhD, at Washington University School of Medicine in St. Louis, rewired stem cells’ genetic circuits to produce an anti-inflammatory arthritis drug when the cells encounter inflammation. The technique eventually could act as a vaccine for arthritis and other chronic conditions.

Using new gene-editing technology, researchers have rewired mouse stem cells to fight inflammation caused by arthritis and other chronic conditions. Such stem cells, known as SMART cells (Stem cells Modified for Autonomous Regenerative Therapy),develop into cartilage cells that produce a biologic anti-inflammatory drug that, ideally, will replace arthritic cartilage and simultaneously protect joints and other tissues from damage that occurs with chronic inflammation.

The cells were developed at Washington University School of Medicine in St. Louis and Shriners Hospitals for Children-St. Louis, in collaboration with investigators at Duke University and Cytex Therapeutics Inc., both in Durham, N.C. The researchers initially worked with skin cells taken from the tails of mice and converted those cells into stem cells. Then, using the gene-editing tool CRISPR in cells grown in culture, they removed a key gene in the inflammatory process and replaced it with a gene that releases a biologic drug that combats inflammation.

The research is availableonline April 27 in the journal Stem Cell Reports.

Our goal is to package the rewired stem cells as a vaccine for arthritis, which would deliver an anti-inflammatory drug to an arthritic joint but only when it is needed, said Farshid Guilak, PhD, the papers senior author and a professor of orthopedic surgery at Washington University School of Medicine. To do this, we needed to create a smart cell.

Many current drugs used to treat arthritis including Enbrel, Humira and Remicade attack an inflammation-promoting molecule called tumor necrosis factor-alpha (TNF-alpha). But the problem with these drugs is that they are given systemically rather than targeted to joints. As a result, they interfere with the immune system throughout the body and can make patients susceptible to side effects such as infections.

We want to use our gene-editing technology as a way to deliver targeted therapy in response to localized inflammation in a joint, as opposed to current drug therapies that can interfere with the inflammatory response through the entire body, said Guilak, also a professor of developmental biology and of biomedical engineering and co-director of Washington Universitys Center of Regenerative Medicine. If this strategy proves to be successful, the engineered cells only would block inflammation when inflammatory signals are released, such as during an arthritic flare in that joint.

As part of the study, Guilak and his colleagues grew mouse stem cells in a test tube and then used CRISPR technology to replace a critical mediator of inflammation with a TNF-alpha inhibitor.

Exploiting tools from synthetic biology, we found we could re-code the program that stem cells use to orchestrate their response to inflammation, said Jonathan Brunger, PhD, the papers first author and a postdoctoral fellow in cellular and molecular pharmacology at the University of California, San Francisco.

Over the course of a few days, the team directed the modified stem cells to grow into cartilage cells and produce cartilage tissue. Further experiments by the team showed that the engineered cartilage was protected from inflammation.

We hijacked an inflammatory pathway to create cells that produced a protective drug, Brunger said.

The researchers also encoded the stem/cartilage cells with genes that made the cells light up when responding to inflammation, so the scientists easily could determine when the cells were responding. Recently, Guilaks team has begun testing the engineered stem cells in mouse models of rheumatoid arthritis and other inflammatory diseases.

If the work can be replicated in animals and then developed into a clinical therapy, the engineered cells or cartilage grown from stem cells would respond to inflammation by releasing a biologic drug the TNF-alpha inhibitor that would protect the synthetic cartilage cells that Guilaks team created and the natural cartilage cells in specific joints.

When these cells see TNF-alpha, they rapidly activate a therapy that reduces inflammation, Guilak explained. We believe this strategy also may work for other systems that depend on a feedback loop. In diabetes, for example, its possible we could make stem cells that would sense glucose and turn on insulin in response. We are using pluripotent stem cells, so we can make them into any cell type, and with CRISPR, we can remove or insert genes that have the potential to treat many types of disorders.

With an eye toward further applications of this approach, Brunger added, The ability to build living tissues from smart stem cells that precisely respond to their environment opens up exciting possibilities for investigation in regenerative medicine.

Brunger JM, Zutshi A, Willard VP, Gersbach CA, Guilak F. Genome engineering of stem cells for autonomously regulated, closed-loop delivery of biologic drugs. Stem Cell Reports. April 27, 2017.

This work was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute on Aging of the National Institutes of Health (NIH), grant numbers AR061042, AR50245, AR46652, AR48182, AR067467, AR065956, AG15768, OD008586. Additional funding provided by the Nancy Taylor Foundation for Chronic Diseases; the Arthritis Foundation; the National Science Foundation (NSF), CAREER award number CBET-1151035; and the Collaborative Research Center of the AO Foundation, Davos, Switzerland.

Authors Farshid Guilak, and Vincent Willard have a financial interest in Cytex Therapeutics of Durham, N.C., which may choose to license this technology. Cytex is a startup founded by some of the investigators. They could realize financial gain if the technology eventually is approved for clinical use.

Washington University School of Medicines 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is one of the leading medical research, teaching and patient-care institutions in the nation, currently ranked seventh in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Stem cells edited to fight arthritis – Washington University School of Medicine in St. Louis

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UVA Gene Mutation Research Method Speeds Precision Medicine – Health IT Analytics

Posted: April 28, 2017 at 12:47 am

Source: Thinkstock

April 25, 2017 -A team from the University of Virginia School of Medicine has developed a quicker way to examine the impact of gene mutation on patient health, potentially changing the way cancer labs conduct research into precision medicine and personalized therapies.

The methodology, which uses a virus similar to HIV to replace normal genes with specific mutations, may even be speedier and more cost effective than the CRISPR gene editing technology that currently forms the basis for much of the industrys cutting-edge genomics work.

“Every patient shouldn’t receive the same treatment. No way. Not even if they have the same syndrome, the same disease,” said UVA researcher J. Julius Zhu, PhD, who led the team that created the new technique. “It’s very individual in the patient, and they have to be treated in different ways.”

The process of understanding and testing a specific mutations impact on disease development and the usefulness of particular therapies has thus far been slow and painful, said Zhu, who holds positions in UVA’s Department of Pharmacology and the UVA Cancer Center.

“You can do one gene and one mutation at a time, he said. Even with the CRISPR [gene editing] technology we have now, it still costs a huge amount of money and time and most labs cannot do it, so we wanted to develop something simple every lab can do. No other approach is so efficient and fast right now.

In addition to ramping up the velocity of studying gene mutations, the new approach may be able to reduce failures in the research process by giving researchers a more sensitive, targeted way to stimulate gene activity.

“The problem in the cancer field is that they have many high-profile papers of clinical trials [that] all failed in some way,” Zhu said. “We wondered why in these patients sometimes it doesn’t work, that with the same drug some patients are getting better and some are getting worse. The reason is that you don’t know which drugs are going to help with their particular mutation. So that would be true precision medicine: You have the same condition, the same syndrome, but a different mutation, so you have to use different drugs.”

Zhu has already used the method to analyze approximately 50 mutation of the BRaf gene, which has been tied to tumor development and certain neurodevelopmental disorders. He envisions that the technique will also help unlock the secrets of other diseases, such as Alzheimers, cystic fibrosis, and a variety of cancers all of which are top priorities for precision medicine researchers.

As the marketplace for targeted therapies and associated precision medicine technologies approaches the $100 billion mark, techniques that can help cancer researchers accelerate the development of new treatments will continue to be in high demand.

Drastically reducing the time from hypothesis to bedside will likely produce financial benefits for research labs as well as clinical benefits for patients.

You’d need to spend 10 years to do what we are doing in three months, so it’s an entirely different scale, said Zhu. Now, hopefully, we can do 40 or 100 of them simultaneously.”

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UVA Gene Mutation Research Method Speeds Precision Medicine – Health IT Analytics

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Scientists and Students Share Insights at Computational Research Day – Northwestern University NewsCenter

Posted: April 28, 2017 at 12:47 am

Elizabeth McNally, MD, PhD, director of the Center for Genetic Medicine, delivered the keynote address at Computational Research Day, on human genome sequencing.

Northwesterns 4th Annual Computational Research Day brought together more than 350 faculty members and students to showcase innovative research projects, share recent insights and tools, and strengthen the computational research community throughout the university.

The event, co-sponsored by Feinberg and hosted by Northwestern Information Technology on the Evanston campus, featured presentations, a poster competition, workshops, software demos and group discussions, all centered on leveraging computational methods to answer complex research questions.

Rex Chisholm, PhD, vice dean of Scientific Affairs and Graduate Education, kicked off the conference with an opening address discussing the Northwestern Medicine Enterprise Data Warehouse, which currently holds more than 40 terabytes of clinical and research data.

We are in a completely different world today, where instead of paper records, everybodys health is now captured in an electronic record, said Chisholm, also the Adam and Richard T. Lind Professor of Medical Genetics. The ability to put that data together in a single place and start to think about big data approaches to identifying patterns in that collection of data is a major game-changer.

Chisholm also spoke about the opportunity for merging such health information with data from the NUgene Project, a genomic biobank sponsored by the Center for Genetic Medicine, which has so far sequenced the genomes of more than 1,000 participants. What we really want to do is combine that 100 terabytes of human sequence data with that 40 terabytes of phenotypic data and do an all-by-all comparison, Chisholm said. Its a classic example of a big data opportunity. And its certain that this approach once we figure out how to do it is going to completely revolutionize how we think about disease: how we think about treatment of disease, how we diagnose disease, and how we actually help people prevent disease.

Elizabeth McNally, MD, PhD, director of the Center for Genetic Medicine, delivered a keynote address on human genome sequencing and echoed the opportunities offered by computational research. This really is an area where there has been a lot of need for big data analysis and its definitely not shrinking anytime soon, said McNally, also the Elizabeth J. Ward Professor of Genetic Medicine.

Gary Wilk, a PhD student in the laboratory of Rosemary Braun, PhD, MPH, assistant professor of Preventive Medicine in the Division of Biostatistics, presented at the poster session.

In addition to biomedical research, the conference also highlighted the use of computing in a wide range of other disciplines, from economics and engineering to applied physics and the social sciences. A guest keynote address was delivered by Desmond Patton, PhD, MSW, assistant professor at the Columbia University School of Social Work, who presented on his research into innovating gang violence prevention through qualitative analysis and natural language processing of social media data.

During the speaker sessions, Paul Reyfman, MD, a fellow in pulmonary and critical care, shared his research using transcriptomics to investigate lung diseases.

Gary Wilk, a PhD student in the laboratory of Rosemary Braun, PhD, MPH, assistant professor of Preventive Medicine in the Division of Biostatistics, presented his research, Genetic Variants Modulate Gene Regulation by microRNAs in Cancer, at the events poster session.

We came up with a novel approach using computational methods to integrate many different molecular cancer datasets from large cancer cohorts, and we applied them to find these results, Wilk said.

At the poster session award ceremony, Yoonjung Yoonie Joo, a Health and Biomedical Informatics PhD student in the Driskill Graduate Program (DGP), received second-place for Phenome-wide Association Studies of Polycystic Ovary Syndrome (PCOS), her research with principal investigator M. Geoffrey Hayes, PhD, associate professor of Medicine in the Division of Endocrinology.

Our project identified several significant phenotypic associations with PCOS risk alleles, including diabetes and its comorbidities, Joo said. We suggested novel etiologic pathways underlying PCOS susceptibility loci, enabling biomedical researchers to potentially discover new therapeutic targets for PCOS treatment in the future.

The first-place prize was awarded to Shannon Brady, in the Weinberg College of Arts and Sciences, with third-place going to Jamilah Silver, in the School of Education and Social Policy.

Scientists and Students Share Insights at Computational Research Day – Northwestern University NewsCenter

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Manifesto of the Futurist Painters –

Posted: April 28, 2017 at 12:47 am


The cry of rebellion which we utter associates our ideals with those of the Futurist poets. These ideals were not invented by some aesthetic clique. They are an expression of a violent desire which boils in the veins of every creative artist today.

We will fight with all our might the fanatical, senseless and snobbish religion of the past, a religion encouraged by the vicious existence of museums. We rebel against that spineless worshipping of old canvases, old statues and old bric-a-brac, against everything which is filthy and worm-ridden and corroded by time. We consider the habitual contempt for everything which is young, new and burning with life to be unjust and even criminal.

Comrades, we tell you now that the triumphant progress of science makes profound changes in humanity inevitable, changes which are hacking an abyss between those docile slaves of past tradition and us free moderns, who are confident in the radiant splendor of our future.

We are sickened by the foul laziness of artists, who, ever since the sixteenth century, have endlessly exploited the glories of the ancient Romans.

In the eyes of other countries, Italy is still a land of the dead, a vast Pompeii, whit with sepulchres. But Italy is being reborn. Its political resurgence will be followed by a cultural resurgence. In the land inhabited by the illiterate peasant, schools will be set up; in the land where doing nothing in the sun was the only available profession, millions of machines are already roaring; in the land where traditional aesthetics reigned supreme, new flights of artistic inspiration are emerging and dazzling the world with their brilliance.

Living art draws its life from the surrounding environment. Our forebears drew their artistic inspiration from a religious atmosphere which fed their souls; in the same way we must breathe in the tangible miracles of contemporary lifethe iron network of speedy communications which envelops the earth, the transatlantic liners, the dreadnoughts, those marvelous flights which furrow our skies, the profound courage of our submarine navigators and the spasmodic struggle to conquer the unknown. How can we remain insensible to the frenetic life of our great cities and to the exciting new psychology of night-life; the feverish figures of the bon viveur, the cocette, the apache and the absinthe drinker?

We will also play our part in this crucial revival of aesthetic expression: we will declare war on all artists and all institutions which insist on hiding behind a faade of false modernity, while they are actually ensnared by tradition, academicism and, above all, a nauseating cerebral laziness.

We condemn as insulting to youth the acclamations of a revolting rabble for the sickening reflowering of a pathetic kind of classicism in Rome; the neurasthenic cultivation of hermaphodic archaism which they rave about in Florence; the pedestrian, half-blind handiwork of 48 which they are buying in Milan; the work of pensioned-off government clerks which they think the world of in Turin; the hotchpotch of encrusted rubbish of a group of fossilized alchemists which they are worshipping in Venice. We are going to rise up against all superficiality and banalityall the slovenly and facile commercialism which makes the work of most of our highly respected artists throughout Italy worthy of our deepest contempt.

Away then with hired restorers of antiquated incrustations. Away with affected archaeologists with their chronic necrophilia! Down with the critics, those complacent pimps! Down with gouty academics and drunken, ignorant professors!

Ask these priests of a veritable religious cult, these guardians of old aesthetic laws, where we can go and see the works of Giovanni Segantini today. Ask them why the officials of the Commission have never heard of the existence of Gaetano Previati. Ask them where they can see Medardo Rossos sculpture, or who takes the slightest interest in artists who have not yet had twenty years of struggle and suffering behind them, but are still producing works destined to honor their fatherland?

These paid critics have other interests to defend. Exhibitions, competitions, superficial and never disinterested criticism, condemn Italian art to the ignominy of true prostitution.

And what about our esteemed specialists? Throw them all out. Finish them off! The Portraitists, the Genre Painters, the Lake Painters, the Mountain Painters. We have put up with enough from these impotent painters of country holidays.

Down with all marble-chippers who are cluttering up our squares and profaning our cemeteries! Down with the speculators and their reinforced-concrete buildings! Down with laborious decorators, phony ceramicists, sold-out poster painters and shoddy, idiodic illustrators!

These are our final conclusions:

With our enthusiastic adherence to Futurism, we will:

The dead shall be buried in the earths deepest bowels! The threshold of the future will be swept free of mummies! Make room for youth, for violence, for daring!

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Manifesto of the Futurist Painters –

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