How I Work: Brian Shirts

Posted By: Elisabeth Rosenthal, PhD, Member of the ASHG Communications Committee

We sat down with ASHG member Brian Shirts, MD, PhD, to learn more about his work at the cutting edge of clinical genetic diagnostics, including how his work intersects with his faith.

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Brian Shirts, MD, PhD. (courtesy Dr. Shirts)

ASHG: Tell us about your position and how it fits into your institution and its goals.

Brian: I am Assistant Professor of Laboratory Medicine at the University of Washington. Being in a clinical department means part of my job is doing clinical genetic testing in patients. Since I am at a university, the other part of my job is teaching and doing research. In order to have this position, I did medical school and doctoral training in human genetics. Then I did specialty training to be board certified in Clinical Pathology and Molecular Genetic Pathology. When I started graduate training, I did not know that the position I currently have existed. When I first met a physician who specialized in genetic diagnosis, I quickly realized, “That is what I wanted to do all along!”

Working at a university, I need to be on the cutting edge of clinical genetic diagnostics. I specialize in hereditary cancer testing and understanding the health effects of extremely rare genetic variants. When I say “extremely rare”, I mean genetic variants that I may see for the first time when I look at the results of a patient receiving clinical genetic testing, or a variant that may have only been seen in one or two other people in the world. In cancer risk genes, these variants are usually inherited and clustered in families, so I like to call them family-specific variants.

I am lucky because my research interests and my clinical work go well together. I spend over half of my time doing research and developing translational applications that will allow myself and others to apply my research discoveries to clinical diagnostics.

ASHG: How do you keep up with the latest in genetics science and use this in your work?

Brian: I try to attend the ASHG Annual Meeting and the Association for Molecular Pathology meeting as often as I can, as I think these are the best forums for the latest in genetics science and genetic diagnostics, respectively. I also read several journals and go to journal club presentations as often as I can.

ASHG: What are your favorite genetics websites?

Brian: I have to give a plug for my website on family studies for rare variant classification: findmyvariant.org. Some of my other favorite genetics websites for non-geneticists are: Genetics Home ReferenceLearn.Geneticsmy46, and Genetic Alliance.

ASHG: What are you currently reading/thinking about?

Brian: I am always thinking about how to apply population genetics principles to clinical diagnostics. For something completely different, I like to read the best books that my kids are reading. I am currently reading “Mr. and Mrs. Bunny–Detectives Extraordinaire!” by Polly Horvath.

ASHG: What everyday thing are you better at than everyone else? What’s your superpower?

Brian: When I go to church, others tell me that I have an extraordinary talent for asking appropriate yet thought provoking questions during Sunday School. Being an outspoken scientist in a faith community can be difficult to navigate, but communicating with people from different backgrounds is a really important skill to develop.

Brian Shirts, MD, PhD, is Assistant Professor of Laboratory Medicine at the University of Washington. He has been a member of ASHG since 2004.

Make Your ASHG 2017 Abstract Shine

Posted by: Emily Greene, MS, ASHG Meetings Program Coordinator

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Watch our 2-minute video of tips to translate your great work into an equally great abstract.

ASHG 2017 abstracts are due in just a few weeks, and every year, abstract authors have the same question: How do I get my abstract programmed? The Rules & Policies and Step-by-Step Submission contain important information about how to conform to ASHG standards and avoid rejection, but today I’ll share some more nuanced tips to help abstract authors rise to the top of the pile.

Include the Most Relevant Information

First and foremost, write a clear, concise abstract that specifies what you did and why it’s exciting. If you sent your abstract to a friend in a distantly related genetics field, could he or she easily identify the work’s purpose, methods used, and key results? If not, then it’s back to the drawing board (or computer, in this case). You may think the information is self-evident, but abstract reviewers each read 150-200 of the >3000 abstracts submitted and will appreciate clarity – they are not mind readers!

Abstracts with broad scientific appeal and new information are more likely to be chosen for talks, especially for the Plenary Sessions. When asked their main reason for attending, most meeting attendees want “to hear about cutting-edge science.” Avoid using general language and clearly state what new information you will present, even if part of your work has been published. It is tempting to recycle language from old abstracts, but keeping your science fresh requires constant updating and a critical eye. Spending an extra hour on writing can reap big rewards if you are awarded a coveted speaking slot.

Remember: your abstract must report scientific findings. Abstracts are not the proper place to announce the availability of a new resource or service, or to advertise a particular product. Discussion of commercial products is permitted and colleagues from industry are encouraged to present, but remember to present objective information about those products, based on generally accepted scientific evidence. Presenting your work as “X product works better than Y product” is a sure way to score poorly during review.

Help Reviewers Classify Your Work

Once you have perfected your abstract and are ready to submit, you may be wondering which main topic and subtopic to select. In 2016, the topics were reorganized for the first time in many years. Authors now choose one main topic and one subtopic indicating what clinical phenotype, related trait, or biological system is being studied, rather than a single topic that might inaccurately describe the research. Of course, given the rise of interdisciplinary and collaborative studies, some authors will still struggle with this classification system. A good rule of thumb is to choose the topic and subtopic that are most appropriate for review. The number of talks chosen from each topic is scaled to the number of submissions, so your abstract has an equal chance of being chosen for a talk regardless of topic. Be sure to tag keywords in your abstract to help the reviewers and Program Committee identify exciting research and build themed sessions.

Follow these tips and submit by June 7, 2017 to have your work considered for ASHG 2017. Then, check out the overview of ASHG’s abstract review process and register to see all your colleagues’ impressive research.

Emily Greene, MS, is the Meetings Program Coordinator at ASHG. She works with the Program Committee and Meetings department to put together the scientific program for the ASHG Annual Meeting.

How I Work: Kathryn Garber

Posted by: Staff

We sat down with ASHG member Kathryn (Kate) Garber, PhD, to learn more about her unusual, three-part job and how she keeps up with it all (hint: superpowers are involved).

ASHG: Tell us about your position and how it fits into your institution and its goals.

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Kathryn (Kate) Garber, PhD. (courtesy Dr. Garber)

Kate: I have three main pieces to my job: teaching, working in a clinical genetic testing lab, and writing for The American Journal of Human Genetics (AJHG). The typical tenure-track academic job wasn’t right for me, but I love academia, and I’ve managed to evolve my job into something that suits me and that fills a niche in our department. Emory has a medical school and training programs for physician assistants and genetic counselors, and all of these students are required to learn human genetics during their training. I have been involved in the design and implementation of each of these programs, and I teach in all three every semester. As I’ve gained more experience, I’ve also been involved in oversight of the medical school program, which has been a great learning opportunity for me.

In the clinical genetic testing lab, I am a variant analyst, which means that I classify DNA sequence variation as being pathogenic (disease-causing) or not before it is reported back to the ordering physician and patient. I also respond to clients who have questions about a variant classification and regularly discuss our classifications with other testing laboratories to help ensure consistency between labs. This job involves a lot of computer work and reading, and I’m constantly learning about new genes and new conditions. To me, it feels like solving puzzles, and I find it very interesting.

Finally, I write a monthly column called “This Month in Genetics” for AJHG. I scan the literature each month to find articles that I think will be of interest to the human genetics community, and then I write a short summary for each. Although sometimes it feels like the deadlines come faster and faster, I can’t think of a better opportunity to stay widely-read and to work on my writing skills. Some of my favorite days are spent scanning tables of contents looking for papers that catch my eye. Although translating that excitement into a few short sentences can be tricky, it is great practice for me in delivering complex information succinctly.

ASHG: How do you keep up with the latest in genetics science and use this in your work?

Kate: My work with AJHG really helps with that! But I also use GenomeWeb to monitor what’s going on. Attending seminars on a wide variety of topics is also something I find valuable, particularly for keeping up with techniques.

ASHG: What are your favorite genetics websites?

Kate: OMIM (Online Mendelian Inheritance in Man) and GeneReviews. Both are go-to websites for me on a daily basis. OMIM does such a great job summarizing the literature on disease genes and is a quick reference for inheritance patterns and to find the phenotype associated with a gene. GeneReviews is a great place to find overviews written by experts that summarize clinically relevant information for a variety of genetic conditions. Both are extremely valuable sources of information for the work that I do.

ASHG: What are you currently reading/thinking about?

Kate: Chromatin domains and other higher order ways to control genes. And because of some of my classes, I’ve been thinking a lot about the latest and greatest treatment strategies for genetic disease, such as RNA-based therapies and gene therapy.

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An example of Kate’s PowerPoint pedigrees. (courtesy Dr. Garber)

ASHG: What everyday thing are you better at than everyone else? What’s your superpower?

Kate: It’s not a broadly applicable skill, but useful for a geneticist: drawing pedigrees in PowerPoint.

Kathryn (Kate) Garber, PhD, is an Associate Professor at Emory University and Chair of the ASHG Communications Committee. She has been a member of ASHG since 2007.

A New Policy Platform for ASHG

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

We are delighted to announce that ASHG has a new policy platform! Developed with the help of members and approved by the Board of Directors, the platform articulates where ASHG stands on a variety of policy issues – which issues are of key importance and our positions on those issues. It will provide direction for the Society’s policy and advocacy activities, and will be essential for communicating our policy perspectives to lawmakers and other stakeholders.

The platform covers four different policy categories that collectively capture the broad scope of ASHG’s policy interests. They are the conduct of genetics research, genetics in healthcare practice, societal uses of genetics, and the teaching of genetics and genetic literacy. Within each of these categories are highlighted a number of key issues, together with relevant statements that the Society has published. We define key issues as those that are consistent with our mission and where we can have an influential role.

Altogether, 17 key issues are listed. Of course, it will not be possible to address all of these at the same time. Rather, we’ll focus our energies according to the evolving policy environment and the prevailing needs of members. For example, in the past month, we’ve partnered with other societies within the Federation of American Societies for Experimental Biology to advocate for increased funding for biomedical research on Capitol Hill, especially timely given proposed cuts to NIH funding by the Trump Administration. We have also been drumming up opposition to the Preserving Employee Wellness Programs Act (H.R.1313), a bill introduced last month that would fundamentally undermine important provisions in the Genetic Information Nondiscrimination Act. Plus, we’ve been speaking out about the potential impact of proposed new travel restrictions to the U.S. on the international scientific community and the research enterprise.

In order to be successful in any of these advocacy activities, we need your help! To facilitate this, we have created a new Take Action page. Currently, you can visit the page to sign on to a letter opposing H.R.1313 and also let us know how the proposed immigration restrictions are impacting you. We’ll keep you updated as we continue to develop this.

Derek Scholes, PhD, is ASHG’s Director of Science Policy. For questions regarding ASHG’s policy and advocacy activities, email policy@ashg.org.

The View from Constitution Avenue

Posted by: Douglas F. Dluzen, PhD, ASHG Training & Development Committee

It’s fitting that the March for Science shared the spotlight with Earth Day. During the slow march down Constitution Avenue, I saw several signs sticking out from the crowd reminding the world that there is no Planet B, no other options. It was also fitting that the day in Washington, D.C. was cloudy and soggy, paralleling the concern millions around the world have for the future of science and its role in our society.

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Doug Dluzen and his wife in front of the Washington Monument (courtesy Dr. Dluzen)

My wife and I, along with friends, took the MARC train from Baltimore down into D.C. We were encouraged to see so many others commuting with us, and so early in the morning. The rain didn’t suppress our spirits and the excitement in the air was palpable. It took the conductor almost the entire duration of the ride to finally make his way into our car to collect our tickets.

We poured out into Union Station with hundreds of others and walked towards the Washington Monument. On the way, I caught more glimpses of the enthusiasm and support science can and should always enjoy. The diversity of the crowd, including the languages I heard to the age range of people I saw, from newborn to the elderly, proved that the march’s message resonated with those from all walks of life.

My group was no different. There was me, a human geneticist; my wife, a neuroscience graduate student; a dentist; a speech therapist; a chemical engineer; a Middle Ages historian; and a recent retiree from public service in the Department of Education. Other groups of friends and families joined with us as we walked down the National Mall and already we could hear chants of ‘Science After Peer Review’ echoing off the Smithsonian museums.

I’ll admit, I wondered if the rest of the world, particularly those who control such things as funding and informed policy, also heard their voices.

Before the march itself, we ducked into a pub to warm up and dry off, and every chair inside was filled with someone else doing the same thing. We were joined by more friends – students studying infectious disease and traumatic brain injury, a programs coordinator for a cystic fibrosis non-profit, and a bacteriologist working to prevent the next superbug. Inside the restaurant, I heard engaging conversations by people sharing lessons learned in the lab, trials and failures of their most recent experiment, or how long it would take to hear back about the latest grant applications. But we also listened to families and individuals from outside of the laboratory, individuals who supported the movement of the march and wanted to come make a difference.

I think it’s their voices that matter the most. They went home that day, outside of the research community bubble, and shared their experiences with their own community. It’s their voices that will be the most powerful moving forward.

We left and joined everyone else next to the Washington Monument. After the march began, it took a while for the crowd to funnel onto Constitution Avenue, at which point the rain had grown steadier. It was shoulder to shoulder the rest of the way to Capitol Hill – an impressive sign of the support for this movement. We managed to center ourselves on the street and we chanted along with others during our walk. Only the tallest of the signs could be seen in the distance. My favorite was: “I like my men tall, dark, and vaccinated!”

I admit I had goosebumps every time a fresh roar of the crowd emanated from somewhere in front of us and rolled down the street through us like the wave at Camden Yards or Nationals Park. Unlike the march, the train ride back to Baltimore was quiet. Everyone, including myself, was worn out. I spent time thinking about the impact the day may have had. For me, although the march answered the question of who still supports science, it left me with even more questions. What happens next? How did we get to the point where a march was even necessary? And what can we do, can we learn from this?

Thankfully, there is some light at the end of the tunnel. As I write this, Congress has announced an additional $2 billion for the NIH this year in the new budget. To me, it sounds like some people heard those voices on Constitution Ave on Earth Day.

Now it’s our job to put that momentum and funding to good use.

Douglas F. Dluzen, PhD, is a postdoctoral research fellow and a member of ASHG’s Training & Development Committee. Learn more about ASHG’s programs for trainees.

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.