Welcome to HHMI-ASHG Fellow Jennifer Hu

Posted by: Staff

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Jennifer Hu, HHMI-ASHG Medical Research Fellow (Courtesy Ms. Hu)

In partnership with the Howard Hughes Medical Institute (HHMI), we’re excited to welcome HHMI-ASHG Medical Research Fellow Jennifer Hu, BS, to a year-long position studying arteriovenous malformations. Jennifer, a medical student, is one of 79 HHMI Fellows who will begin their research experience this summer, at laboratories across the U.S.

“The Med Fellows Program allows exceptional MD, DVM, and DDS students to effectively shift course and conduct rigorous research at top institutions across the country…we hope that each student comes away further empowered to pursue a career as a physician-scientist,” said David Asai, senior director in science education at HHMI in a press release.

Jennifer, currently a third-year medical student at the Cleveland Clinic Lerner College of Medicine, will be working with longtime ASHG member Matthew Warman, MD, at the Boston Children’s Hospital. Her project involves understanding how somatic mutations can drive the formation of vascular anomalies – in particular, arteriovenous malformations.

“The options for children currently affected by AVMs are limited and they often recur despite the best medical and surgical efforts,” Jennifer explained. “Using a mouse model, we aim to recapitulate somatic mutations that have been previously identified from patient tissues. Showing that this mutation can recreate the AVM in a mouse model will allow us to understand the development of the disease and have a new model in which to test existing or new therapies,” she said.

Long term, Jennifer plans to build upon this experience to become a physician-scientist. “In medicine, we often hear the phrase, ‘treat the patient, not the disease.’ Our ever-growing understanding of genetics makes disease personal. As a future physician-investigator, I want to partner with patients in research, not just do research with patients,” she said.

Launched 28 years ago, the HHMI Medical Research Fellows Program supports each Fellow through a year-long research project with a mentor of the Fellow’s choosing, and also facilitates peer networking among Fellows and alumni as well as seminars with senior investigators. For more information, see the Program website.

Congrats to the 2017 DNA Day Essay Contest Winners!

Posted by: Kanika Pulliam, PhD, and Evelyn Mantegani, BA, ASHG Education Department

Happy DNA Day! Every April 25, we commemorate the completion of the Human Genome Project in 2003 and discovery of the double helix of DNA in 1953. ASHG marks this date each year by announcing the winners of our Annual DNA Day Essay Contest.

Open to high school students worldwide, the contest asks students to examine, question, and reflect on important concepts in genetics. This year’s theme was gene therapy. Students were asked to choose one modern example of gene therapy (since 2005), describe the disease or condition researchers are attempting to treat, and explain how the therapy or approach might repair the underlying cause of the disease or condition.

We received over 1100 essays from 38 U.S. states and 21 non-U.S. countries. Essays went through three rounds of scoring by ASHG members, who selected a first, second, and third place winner as well as 11 honorable mentions. ASHG will award monetary prizes to winning students as well as grants for genetics laboratory equipment to eligible teachers.

“This year’s essays continue the tradition of high-quality submissions…that we have seen for the past 12 years, and their enthusiasm for the science reflects the excitement that our members feel about their work,” said Joseph D. McInerney, MS, Executive Vice President of ASHG, in a press release.

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Adele Peng, a freshman at Thomas Jefferson High School for Science and Technology in Alexandria, Virginia, received first place for her essay on using zinc finger nucleases to immunize against HIV. Sophia Spiegel, a junior at Bergen County Academies in Hackensack, New Jersey, received second place for her essay on using recombinant adeno-associated virus vectors to treat Leber’s Congenital Amaurosis. And Alvin Ya, a senior at Poolesville High School in Poolesville, Maryland, received third place for his essay on potential uses of CRISPR to treat muscular dystrophy.

For a full list of winners and honorable mentions, teachers, and excerpts from winning essays, check out the DNA Day 2017 Winners. Through this contest and our other K-12 initiatives, we hope to encourage young people to explore genetics and inspire the next generation of ASHG members and leaders.

Kanika Pulliam, PhD, Educational Programs Manager at ASHG, and Evelyn Mantegani, BA, Educational Programs Assistant, organized the DNA Day Essay Contest for high school students. Learn more about ASHG’s efforts in K-12 education.

Sign on to ASHG Letter Opposing H.R.1313 and Protect GINA

Posted by: Derek Scholes, PhD, ASHG Director of Science Policy

20170419_HR1313-letterAs you may have heard, a bill called the Preserving Employee Wellness Programs Act (H.R.1313) was introduced last month in the U.S. House of Representatives. If passed, this bill would fundamentally undermine the privacy protections of the Genetic Information Nondiscrimination Act (GINA), a 2008 law ensuring (among other things) that a person can take a genetic test or volunteer to participate in genetic research without fear of having to share this information with their employer. This is an important protection within GINA: if employers can’t access their employees’ genetic information, they can’t discriminate on the basis of that information.

Unfortunately, H.R.1313 would effectively repeal this protection by allowing employers to coerce employees into sharing their genetic test results or family history, or even to require them to undergo genetic testing. By undermining the Americans with Disabilities Act, the bill would also empower employers to require their employees to divulge other health information. Employees who decline to share their genetic and health information could be penalized thousands of dollars, such as through increased health insurance premiums.

In order to stop H.R.1313 being passed, we must show Congress how strongly the genetics community opposes it and why GINA remains important to genetics research and medicine. To preserve GINA’s protections, we urge you to add your name to our geneticist sign-on letter opposing H.R.1313 by May 1. Over 800 genetics specialists have signed on so far. We plan to share this letter with Congress when the bill is next taken up for discussion.

Want to do more? Here’s how:

  • Call or email your members of Congress to urge them to oppose this bill. If you’ve never called an elected representative before, these tips may be useful.
  • Spread the word about the bill and why you oppose it, such as by submitting a letter to your local paper. Our press release and list of news clips are a good place to start.
  • Share our letter with your genetics colleagues and urge them to sign on as well.

Thank you for taking action!

Derek Scholes, PhD, is ASHG’s Director of Science Policy. To get more involved in ASHG’s advocacy efforts, check out our Take Action page.

ASHG is Partnering with the March for Science

Posted by: Nancy Cox, PhD, ASHG President, and Joe McInerney, MS, ASHG Executive Vice President

20170413_March-supporter_logoWe’re happy to share that ASHG has signed on as an official partner to the March for Science, taking place April 22, 2017, in Washington, DC and at 425+ sister marches around the world. As genetics specialists and enthusiasts, we know firsthand how valuable science is to society – indeed, it may be what brought many of us to science in the first place. We look forward to celebrating the passion and dedication of scientists worldwide, and to recognizing the enormous support and respect people around the world have for the scientific endeavor.

Nancy Cox, PhD, ASHG President, directs the Vanderbilt Genetics Institute and is a Mary Phillips Edmonds Gray Professor of Genetics. She is also the Director of and a Professor of Medicine in the Vanderbilt Division of Genetic Medicine. Joe McInerney, MS, is the Executive Vice President of ASHG.

A Genetic Counselor’s Perspective of ACMG 2017

Posted by Karen Hanson, MS, MBA, CGC, Health Professional Education Programs Manager at ASHG

Last month, I had the opportunity to attend the American College of Medical Genetics and Genomics (ACMG) 2017 Annual Meeting. As a genetic counselor working on health professional education at ASHG, one theme stood out to me: the rapid integration of whole genome/exome sequencing (WGS/WES) into clinical practice.

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Karen Hanson (right) and Director of Education Michael Dougherty, at the ASHG booth in the ACMG Exhibit Hall.

Apparently, we are sequencing everyone – sick people, healthy people, adults, children, babies, and fetuses. The inspiring talk by William Gahl, MD, PhD, NHGRI, NIH about the work of the Undiagnosed Diseases Network (UDN) reminded us all of why we (researchers, clinicians, laboratorians) entered this field. This session showcased what could be thought of as the most traditional use of WGS/WES in the clinic: using advances in genomic sequencing to improve diagnostic outcomes in patients with suspected genetic disease. It’s now less likely that patients and families will struggle without a diagnosis for years.

Infants born with congenital anomalies or metabolic disease are also benefiting from rapid sequencing technologies that allow their physicians and families to quickly treat and manage them. And it’s not just ‘sick’ babies that are being offered sequencing. Several clinical trials are looking at the efficacy and outcomes of sequencing ‘healthy’ newborns. For years, the genetics community has talked about when the day would come that all newborns have a ‘genetic’ barcode (consider that the movie Gattaca turns 20 this year!). Newborn screening programs have already expanded to include dozens of carefully selected disorders, and WES almost seems like a logical next step. However, in at least in one clinical trial, the majority of parents of healthy newborns who were offered WES declined testing. So maybe we are not quite ready yet.

Another session was devoted to genomic sequencing in ‘healthy’ adults. The current scientific atmosphere certainly seems right for this, when you consider the advances in sequencing technology, the rapid growth of variant databases, and the push for personalized medicine. It did occur to me that we haven’t really worked out the ethical and logistics dilemmas we encounter through WGS/WES of ‘unhealthy’ individuals. However, to paraphrase Les Biesecker, MD, FACMG, NHGRI, genome sequencing is here and it’s not going away. The dilemmas associated with sequencing ‘healthy’ people are not new – variant classification, not enough genetic professionals, health provider education, and access to diverse and underserved populations. But overall, the intention is good – to use genomic technology to improve health and patient care. Which for me begs at least one question: who’s going to manage all these ‘patients’? After all, we will all be ‘patients’ after we get our WGS test results.

So, as a genetic counselor working on health professional education at ASHG, I think of all this as job security. My job – our job as geneticists – is cut out for us. We need to educate our medical workforce and all the rest of the ‘patients’ out there about genomic medicine. And who better to do it then those of us who have been and still are in the trenches.

Karen Hanson, MS, MBA, CGC, is Health Professional Education Programs Manager at ASHG. Read more about ASHG’s educational programs for health professionals.

Welcome to Our Blog

Posted by: Staff

Welcome to The ASHG Blog, our newest outlet for sharing news and information with our members and the wider human genetics community! We hope to use this space to update you on Society activities, keep you posted on happenings of interest, spotlight individuals doing fascinating work, and build a stronger connection with members. We encourage you to share your thoughts by commenting on the posts or contacting us.

Interested in contributing to the blog? Please email blog@ashg.org for more information.

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