Snapshots from the July Program Committee Meeting

Posted By: Pauline Minhinnett, Director of Meetings; and Emily Greene, Meetings Program Coordinator

Earlier this week, the ASHG Program Committee gathered in Bethesda, Maryland, to create and assemble the ASHG 2017 scientific program. Having reviewed more than 3,100 submitted abstracts, with help from more than 100 reviewers, the Committee met in person to bring the highest-scoring work together into themed sessions for the meeting’s three Featured Plenary Abstract Sessions and five Platform Sessions. They used early registration data to assign sessions to rooms, ordered presentations within each session to tell a coherent story, and selected Reviewers’ Choice Abstracts among top-scoring posters. They also discussed educational events at the meeting, trainee opportunities, and abstracts of interest to press.

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PC members alternated small group work with full-committee presentations as each session was constructed.
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Large group discussions informed the scientific program and planning for future years.
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The ASHG 2017 Program Committee

In the coming weeks, the Committee will select and confirm moderators, make any necessary adjustments, and continue planning Tuesday’s Poster Talks session. Those who submitted abstracts should receive their program assignment in mid-August.

Pauline Minhinnett, CMP, CEM, and Emily Greene, MS, are part of ASHG’s Meetings Department. Learn more about the ASHG 2017 Annual Meeting, October 17-21 in Orlando, Florida.

An ASHG Fellow’s Perspective on Conference Prep, Part 2: Conference Events

Posted by: Teresa Ramírez, PhD, 2016-17 ASHG/NHGRI Genetics & Education Fellow

See Part 1 of Teresa’s guide, which focuses on networking

Conferences offer a variety of networking events you should fully take advantage of, but keep in mind that scientific sessions and visiting the exhibit hall can also provide new opportunities.

Before attending a conference, it is always a good idea to glance at the agenda and mark workshops of interest. Identify speakers whom you would like to meet. Each conference is unique because each offers various workshops, resources for different career levels, and receptions that allow you to network in a safe space. There is no need to feel shy or stay quiet at a conference; you can always ask questions. Use this time to explore, learn, listen, and communicate.

Use Presenting as an Opportunity

Each conference I’ve attended has provided me with great opportunities that I would have never imagined. I have learned to feel more confident while presenting my research. Was I nervous? Of course, but the more I practiced, the more comfortable I felt. Constructive feedback from people who visited my posters or talks has helped me improve my presentation skills. I was asked questions that provided me with great ideas about what to do next in my research project.

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Teresa Ramírez presents her research at the 2017 Japan-NIH Joint Symposium on Advances in Biomedical Research (courtesy Dr. Ramírez)

Presenting a poster or an oral presentation at a conference can also be a good way to interact with people at various career levels, which may lead you to discover similar interests. Be ready with your elevator pitch about your research (a minute or two) and your own branding statement (a simple statement). No need to be arrogant but in simple terms, describe who you are and your interests.

Remember the Exhibit Hall

Most conferences have an exhibit hall with vendors, institutions, resources, and career centers. Take advantage and visit them. This can help improve your networking skills or spark ideas for the next step of your career. By strolling around conference exhibit halls, I have learned about summer internships, scholarships, fellowships, post-baccalaureate programs, and graduate schools. Now, I learn about new job opportunities or professional/leadership training opportunities.

Relax and Enjoy the Experience

You never know whom you will meet or what you can learn from a conversation with a stranger. So make sure you have a plan but also go with the flow and enjoy every minute of your conference experience. Don’t stress about it. At conferences, I have met people who became life time friends and wonderful mentors who have been instrumental in my career through their advice and support.

Please check out the ASHG website for more information on trainee opportunities, resources, and ASHG 2017.

Teresa Ramírez, PhD, is the 2016-2017 ASHG/NHGRI Genetics & Education Fellow. Learn more about the Genetics & Education Fellowship.

How I Work: Karlene Coleman

Posted By: Chris Gunter, PhD, Member of the ASHG Communications Committee

We sat down with ASHG member Karlene Coleman, BSN, MSN, CGC, AGN-BC (Advanced Genetics Nurse – Board Certified), to learn more about her work providing genetic counseling, running a specialty clinic, and educating health professionals.

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Karlene Coleman, BSN, MSN, CGC, AGN-BC (courtesy Ms. Coleman)

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

Karlene: My position has two main parts: the first is that I follow up on and provide genetic counseling for genetic testing ordered through the Marcus Autism Center, which is the largest clinical center for autism care in the U.S. Second, I created a specialty clinic for 22q11.2 deletion back in 2006, and we have now seen over 700 families. I also give lectures in multiple training programs at Emory, including the Schools of Medicine and Nursing.

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

Karlene: I am a member of ASHG and the American College of Medical Genetics (ACMG), so I attend the annual meetings for both and read many journal articles from each. I also get GenomeWeb alerts. In addition, I am a member of the International Society of Nurses in Genetics (ISONG), and use their newsletters and webinars.

ASHG: What are your favorite genetics websites?

Karlene: Of course I use OMIM, GeneReviews, and Genetics Home Reference at NIH regularly. I also use a new site called ThinkGenetic, developed by a colleague at Emory, which is to help educate families and guide them through symptoms to come up with questions for their doctors or to self-diagnose genetic conditions.

ASHG: What are you currently reading/thinking about?

Karlene: We are using developmental questionnaires in our 22q clinic to identify the needs of the children over time, and we just submitted an abstract to ASHG 2017 looking at the reliability of these measures.

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

Karlene: Serving as a resource for people all over the region on what to do and where to refer when they need to help specific patients. I just got a call yesterday from one of our physician liaisons after I had given them a lecture several weeks ago, and they are already calling to make referrals. It’s great!

Karlene Coleman, BSN, MSN, CGC, AGN-BC, is a Clinical Nurse Coordinator at the Marcus Autism Center at Children’s Healthcare of Atlanta. She has been a member of ASHG for over 20 years.

Inside AJHG: A Chat with Hugo Bellen and Julia Wang

Posted by: Sara Cullinan, Deputy Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month, we check in with Hugo Bellen, DVN, PhD, and his student Julia Wang, two of the co-authors of “MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.”

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Zhandong Liu, PhD (left); Julia Wang (center); and Hugo Bellen, DVM, PhD (right). (courtesy Dr. Bellen)

AJHG: How did you begin working on this project?

Hugo and Julia: As the Model Organism Screening Center for the Undiagnosed Diseases Network (UDN), we receive cases from the UDN clinical sites to assess if variants of unknown significance or variants in genes that have not yet been associated with human diseases might affect protein function. Our goal is to functionally test variants in fruit fly or zebrafish homologues. This project began because of our need to efficiently identify the best human candidate variants of those submitted by the clinical sites for a specific human disease. As each gene and variant requires a substantial amount of work, we need to be as selective as possible and mine as much information as possible before making a decision. We therefore screen public human and model organism databases to systematically extract information that may guide our project and selection. We developed MARRVEL to gather all this information and help us in the selection of the best candidates for further analysis.

AJHG: What about this paper most excites you?

Hugo and Julia: The ability to immediately obtain key information such as allele frequency in different human populations, human gene function, phenotypes, and expression and function of homologues of the human gene in all model organisms. Through MARRVEL, the accessibility of human genetics and model organism data is greatly facilitated. As of mid-June, we have about a thousand returning users spanning the USA, Europe, Asia, Australia, and beyond.

AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?

Hugo and Julia: We foresee that model organisms will play a progressively more important role in human genetics in the future. By providing human geneticists with an approachable gateway to model organism research, and vice versa, MARRVEL will likely increase collaboration between human geneticists and model organism researchers at a critical point. Indeed, in a few years, the vast majority of genes that cause disease will have been identified. We will then have to focus on the mechanisms by which these genes cause disease. This can best be done in model organisms like worms, flies, and zebrafish as nothing can replace whole organisms in the quest for mechanisms and development of drugs. In our lab, we have successfully used fruit flies to better understand the pathogenic mechanisms associated with Parkinson’s disease, Alzheimer’s disease, Friedreich’s ataxia, and others. We anticipate that discovering mechanisms associated with loss and gain of gene function implicated in rare diseases will tell us heaps about common disease and how to tackle some problems in patients.

AJHG: What advice do you have for trainees/young scientists?

Hugo: The model organisms, such as yeast, worms, flies, fish and mice, provide us with the necessary sophisticated tools to tackle many probing questions related to human pathobiology and drive discovery. Note that of the 106 Nobel prices in Physiology and Medicine, 94 were dependent on animal model systems. This includes every prize for the past 30 years. I anticipate that many more will follow as our model organisms allow us to develop superb tools like monoclonal Ab, RNAi, and CRISPR, as well as many elegant genetic tools to manipulate their genomes. Hence, we will continue to break the code of human life and disease. If I were a young scientist, I would again embark on a career in genetic research in yeast, worms, or flies with more emphasis on the integration of the acquired knowledge with human biology.

AJHG: And for fun, tell us something about your life outside of the lab.

Hugo: I love fishing and especially fly fishing. In a nutshell, flies rule my work and hobby.  Unfortunately, the hobby part is restricted to less than 0.5% of my available time.

Hugo Bellen, DVM, PhD, is a Professor in the Departments of Molecular & Human Genetics and Neuroscience as well as the Program in Developmental Biology, and an Investigator of the Howard Hughes Medical Institute, at the Baylor College of Medicine.

 

ASHG’s Response to the Latest Restrictions on Travel to the U.S.

Posted by: Nancy Cox, PhD, ASHG President

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Nancy Cox, PhD, ASHG President

Back in March, when I wrote a letter to ASHG members explaining our opposition to the then-recently announced restrictions on travel to the U.S., I was hoping they would be struck down quickly by the courts without any lasting effects. Unfortunately, that has not been the case. This week, the U.S. Supreme Court released an opinion on the restrictions, and in doing so partially lifted barriers to their implementation that had been imposed by lower courts.

This Supreme Court decision allows the federal government to implement travel restrictions for an interim period while the court considers more fully the legal challenges. This interim set of restrictions applies to fewer people than the previous one, and it appears that people from the affected countries with documented, personal or professional connections to the United States will likely be admitted. This means that most of our members and meeting attendees should not be directly affected (though we continue to advise that you apply for your visa early).

However, even if this is the case, there is another, subtler effect. In the spring, we asked you to tell us your thoughts on these restrictions. We learned that beyond concrete worries about treatment in the U.S. and being able to return to one’s home country, there is also sadness about the sentiment and assumptions behind the policy, as well as concern about its effect on international scientific collaboration.

To those who shared their thoughts and experiences, thank you for your candor. We continue to invite comments from members whose personal lives, careers, and workplaces have been affected; you can write to us at policy@ashg.org.

To those who worry about their travel to ASHG 2017 and other conferences, I want to reiterate that people from all nations are welcome at our meeting. Scientific ideas and findings don’t recognize national borders; indeed, they are strengthened and improved by crossing country lines and being discussed among diverse groups.

These policies are still in flux, and the U.S. Supreme Court will hear arguments for and against the travel restrictions in the fall, before coming to a final decision regarding their legality. In the meantime, we strongly urge non-U.S. meeting attendees to apply for a visa as early as possible. Once you submit an abstract or register for the meeting, you’ll be able to generate a letter of invitation, an important part of your visa application. Please don’t wait until your abstract is accepted to begin this process.

We will continue to monitor these policies as they are clarified, and will keep in touch about the need for further efforts.

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.

An ASHG Fellow’s Perspective on Conference Prep, Part 1: Networking

Posted by: Teresa Ramírez, PhD, 2016-17 ASHG/NHGRI Genetics & Education Fellow

Attending national conferences can be intimidating or exciting. The first one I attended was quite overwhelming. Do you remember how you felt at yours? Did you ask yourself questions like: why is it important to attend a national conference? How do I prepare? How can I make the most of it? What should I do and how do I network? These thoughts can be nerve-wracking, but don’t worry: these tips will help ease your nerves and guide you to prepare for the next one.

Meet People and Follow Up

As an undergraduate student at California State University, Dominguez Hills, I participated in the NIH-funded Minority Biomedical Research Support (MBRS) program, where I learned about the do’s and don’ts of attending conferences. First, look and dress professionally because first impressions make a difference.

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Teresa Ramírez at a recent meeting of SACNAS (Advancing Chicanos/Hispanics & Native Americans in Science) (courtesy Dr. Ramírez)

Second, be sure to have business cards. It might seem outdated, but business cards can help break the ice and start conversations. I know that reaching out and introducing yourself might be uncomfortable, but it will all be worthwhile even if you end up feeling dead tired and drained. Make sure your business cards include your full name, degree/title, organization, contact information, LinkedIn URL, and something that can grab people’s attention in a positive way. One of my tips is to immediately write on the back of each card collected the date you met that person, key words to help you remember the conversation, and the name of the event/location. These notes are helpful because, believe it or not, you will start collecting tons of cards and by the end of the day, you will forget which card belongs to whom. Nurture these new relationships by writing follow up emails; showing interest and professionalism can set you apart.

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In 2016, Dr. Ramírez presented on STEM careers to a group of high school interns, a talk she was invited to give by a contact whom she met at a dinner. (courtesy Dr. Ramírez)

By networking, you never know who you can meet and what the outcome can be. You can meet your next mentor, find out about a new opportunity, or start a new collaboration. You might even get invited to do a research talk or share your story with K-16 students, like I did. Keep reminding yourself to be open-minded and network with new people during meals. Attendees usually feel comfortable sitting with people they know, but this is the right time to try sitting with unfamiliar faces to start a conversation. During this time, you have the opportunity to network, introduce yourself, and even use your scientific elevator pitch. I have sat in tables with total strangers feeling a little uncomfortable at first but at the end, had wonderful conversations and met new friends.

Please check out the ASHG website for more information on trainee opportunities, resources, and ASHG 2017.

Teresa Ramírez, PhD, is the 2016-2017 ASHG/NHGRI Genetics & Education Fellow. Learn more about the Genetics & Education Fellowship.

Do You Love DNA as Much as Jim Sikela?

Posted by: Nalini Padmanabhan, MPH, ASHG Communications Manager

About ten years ago, ASHG’s education department was looking for creative ways to teach human genetics and make it more appealing to K-12 students and teachers. Longtime member James Sikela, PhD, happened to have just the thing: his original song “I Love DNA,” sung and recorded with the help of his daughter Megan, under the band name Gene and the Chromosomes. (You can listen to “I Love DNA” or read the lyrics on the ASHG website).

We rediscovered Jim’s song around DNA Day in April, and decided to catch up with him and learn how this recording came to be.

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Gene and the Chromosomes onstage. (courtesy Dr. Sikela)

Jim: For a long time, I’ve been a fan of Randy Newman, who wrote a song called “I Love L.A.” That’s where the music and vocal style for “I Love DNA” came from. I’d been into music for quite a while – writing, recording, and playing with various bands. This song took a few years to write and record, which we finally did around 2005. It wasn’t a focused project, but more a natural outgrowth of my interest in both science and music.

ASHG: Your daughter’s vocals are featured towards the end of the song. Tell us about that.

Jim: That part was recorded in 1992, when Megan was five. It was during the early days of the Human Genome Project, and I’d brought home a stack of ABI fluorograms to work on. Each one had about 400 bases of DNA sequence data on it. We were playing at night before she went to sleep, and I showed her the sequence, saying “bet you can’t read off all those letters!” She, being five, was sure she could do it, and fortunately I had a tape recorder nearby to capture that. Years later, when I put together the song, I thought it fit really well.

By the way, the funny line right after that saying “please fund my grant!” was also a real plea. Funding was tight and we had been turned down several times. But fortunately we finally did get funded, so it must have worked.

ASHG: What was it like working on the Human Genome Project in the early 1990s?

Jim: It was a fun time. My lab had the first automated DNA sequencer in Colorado, so we were doing a lot of experimentation with how to use it. My lab came up with a novel way to rapidly map genes on a detailed level, which we were asked to use to map genes for the Human Genome Project.  All of those sequences were deposited into a public database, which led, among other things, to the discovery of Presenilin 2, a gene associated with Alzheimer’s disease. I recounted those early days of the HGP, including some personal perspectives, a few years ago in Genetics.

ASHG: What are you doing now?

Jim: I’m still doing human genome work. My lab uses genomic approaches to study human disease and human evolution, and how they are related. For the last ten years or so, we’ve focused on DUF1220 protein domains, which we believe show the largest human-specific increase in copy number of any gene coding region in the genome. Humans have about 300 copies of this domain, chimpanzees have about 120, monkeys have about 30, and other mammals have only 1-8. We published our initial results describing this discovery in Science in 2006, and more recently have linked the domain to autism and schizophrenia. The studies suggest that the same gene sequences that underlie human brain evolution may also be involved in autism and schizophrenia. If true, it means that the human brain may have come at a severe price.

ASHG: Any plans for a remix of “I Love DNA”?

Jim: Besides wanting to make a technically more polished recording, I always thought it would be fun to make a video. While we never got around to it, if someone would like to take that on, I’m sure Megan and I would be happy to help.

James Sikela, PhD, is a Professor at the University of Colorado School of Medicine. He has been a member of ASHG since 1988.