Presenting: ASHG 2018 Award Winners

Posted By: Staff

We are pleased to announce this year’s ASHG awardees! Awards will be presented at the ASHG 2018 Annual Meeting this October in San Diego. Thank you to all the nominators, and congratulations to our recipients!

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For details on the awards process, please see our awards page. To view when each award will be presented, see the meeting schedule of events.

DNA Day Wins ASAE Power of A Award

Posted By: Mona Miller, ASHG Executive Director

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We are pleased to share that our National DNA Day Essay Contest has received an ASAE Power of A Silver Award. These awards recognize a select number of organizations annually that distinguish themselves with innovative, effective, and broad-reaching programs that positively impact the United States and the world.

ASHG’s DNA Day Essay Contest began in 2005 and is open to students in grades 9-12 around the world. Participants are encouraged to work with their teacher to write a 750-word essay responding to the year’s question. The question is selected with the goal of pushing students to examine, question, and reflect on important concepts in genetics, which are not normally covered in a typical high school biology curriculum. The goal of the question is for students to expand their knowledge of human genetics and to use evidence-based critical thinking in their response.

The contest has grown from around 300 essay submissions in its first years to over a thousand submissions in 2018. This year, ASHG received essays from 43 U.S. states and 23 countries who explored how genetics is informing, shaping, and changing our lives, after which more than 350 ASHG members evaluated the results for accuracy, creativity, and writing.

The contest also engages our members, who act as reviewers and judges for the contest, in an activity that ties them to public outreach and creating the next generation of geneticists. Each year, around 500 members volunteer for this rewarding and worthwhile experience.

The DNA Day Essay Contest has become a signature of ASHG and we are proud of the high number of participants and member volunteers, the satisfaction of our volunteers, and the chance to expand students’ education of human genetics.  We are thrilled to have been recognized for this long-standing program that is an embodiment of ASHG engagement and creativity.

A big thank you to all teachers, students, and member volunteers who have participated over the years!

 

ASHG Affirms Essential Role of International Travel, Global Participation for Scientific Advancement

Posted By: David L. Nelson, 2018 President

In light of the United States Supreme Court’s decision to uphold the White House’s 2017 Executive Order limiting travel for citizens of select nations, I want to affirm, on behalf of the membership of our Society, that we remain committed to the knowledge that research in the U.S. benefits greatly from the presence and full participation of international researchers in laboratories around the country and world.

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ASHG noted in our March 2017 statement opposing the ban that nearly one-third of  members reside outside the U.S., and that cross-pollination of ideas across borders is essential for sparking new avenues of inquiry and establishing partnerships. The diversity of experience, perspective, and expertise that comes from a globally connected research community moves science forward, and that benefits all of us. As 2017 ASHG president Nancy Cox noted so eloquently at the time, as geneticists, “we are all students of human variation and we value – indeed, celebrate – the diversity that has contributed to our survival as a species.”

We affirm our commitment to serve and support the international human genetics community and continue to welcome participation of scientists from all nations in the Society’s work and events.

David L. Nelson, PhD, is 2018 President of ASHG. He is a Cullen Foundation Professor of Molecular and Human Genetics at the Baylor College of Medicine, Associate Director of the BCM Intellectual and Developmental Disabilities Research Center, and Director of the BCM Integrative Molecular and Biomedical Sciences Graduate Program.

Welcome HHMI-ASHG Fellow, Sarah Abdallah

Posted By: Ann Klinck, ASHG Communications and Marketing Assistant

ASHG is excited to be partnering with the Howard Hughes Medical Institute (HHMI) for the HHMI-ASHG Medical Research Fellowship. We’re happy to welcome third-year Yale medical student, Sarah Abdallah, to the position.

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Sarah Abdallah, HHMI-ASHG Medical Research Fellow (Courtesy Ms. Abdallah)

This program allows medical, dental, and veterinary students to take a year off from training and perform mentored laboratory research with support of a grant. “Our hope is that the experience will ignite students’ passion for research and encourage them to pursue careers as physician-scientists,” says David Asai, HHMI’s senior director for science education in a press release.

Sarah was interested in the fellowship because “it seemed to provide access to a community of scientists and to enriching experiences on top of my research, like attending conferences and meetings.”

Sarah’s research is focused around obsessive compulsive disorder (OCD). Specifically, it involves looking for post-zygotic variants in whole-exome sequencing data from individuals with OCD and their parents. These variants arise spontaneously and are not inherited from parents. By identifying the post-zygotic variants, it may be possible to understand the contribution of such variation to OCD development, identify risk genes, and eventually find new treatments.

“I am hoping this project will contribute to the collective understanding of the genetic basis of OCD. Many people with OCD do well, but I have seen firsthand how it can present as a very disabling, persistent disorder, and current pharmacologic treatments are not completely effective for all patients,” Sarah said.

ASHG member and Sarah’s primary mentor, Thomas Fernandez, MD, is an assistant professor in the Child Study Center and of Psychiatry at Yale. Another ASHG member and her co-mentor, James Noonan, PhD, is an associate professor of genetics at Yale.

During her fellowship, Sarah is hoping to gain more experience in computational genomics and is seeking guidance on how to combine her clinical and research interests into a career. She trusts that people like Dr. Fernandez will be able help her find the right path. She is considering a career in child psychiatry and pediatrics, but “either way, I hope to keep contributing to research on the genomics of neurodevelopmental disorders along with my clinical practice,” she said.

Launched 29 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 facilitates peer networking among Fellows and alumni as well as seminars with senior investigators. For more information, see the Program website.

 

Member Survey: ASHG Needs Your Input

Posted By: Mona V. Miller, ASHG Executive Director

In the coming year, the ASHG Board of Directors will begin a strategic planning period, and is seeking your input on what we do well and what we can do even better. In particular, the Board would like to know how ASHG can best support, represent, and advocate for the dynamic, diverse, and interdisciplinary field of human genetics. The new strategic plan will help guide how ASHG can serve you as members and leverage our collective efforts to advance the field.

To this end, we hope to better understand our current members and your priorities for our work through an important member survey. Launching this week and administered by our partners at McKinley Advisors, the survey invites your feedback on topics like:

  • What are your professional needs and challenges?
  • How can we best represent our diverse membership and enhance programs that serve you?
  • What are the most pressing issues confronting the Society and the larger genetics community that we are well positioned to address?
  • How can we better engage you in Society service opportunities, whether in public education, outreach and advocacy programs, or volunteer engagement?

Thank you for your input, and please be on the lookout for these opportunities!

AJHG Welcomes Its New Editor: Q&A with Bruce Korf

Posted By: Staff

A warm welcome to Bruce R. Korf, MD, PhD, new Editor-in-Chief of The American Journal of Human Genetics (AJHG)! We chatted with Dr. Korf about his vision for the journal, which he also described in an editorial in this month’s AJHG.

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Bruce R. Korf, MD, PhD, Editor of AJHG

ASHG: What excites you about human genetics research today?

Bruce: Human genetics encompasses an enormous range of research activity. We are in a golden age of gene discovery, including the identification of genes that underlie rare disorders and revealing genetic contributions to common disorders. From my own perspective as a medical geneticist, it’s exciting that disorders we used to only be able to diagnose are now potentially treatable as we uncover the genetic mechanisms and underlying pathophysiology.

There is also fascinating research into human origins and history, independent of medical implications. As a reader of the Journal I did not previously focus on this type of work, but now as AJHG Editor, I am finding this work to be really interesting – these papers bring together ideas we can all relate to.

ASHG: How do you view AJHG’s role in advancing the field?

Bruce: AJHG is the place for geneticists to showcase their best research. It’s a forum to publish findings of broad interest in genetics, and has long been trusted for its scientific rigor, integrity, and careful review of manuscripts. It’s also a resource for the next generation of geneticists, to both encourage and educate early-career scientists and trainees.

As we learn more about ways to diagnose and increasingly, to treat genetic conditions, the Journal can be involved in publishing papers that demonstrate the clinical utility of these interventions – to show that they actually improve outcomes in a cost-effective way. Findings published in AJHG also help highlight the value of publicly funded research: this important work produces new knowledge that leads to better health care and outcomes.

ASHG: ASHG members receive a free subscription to AJHG and are exempt from publishing fees. What other benefits does AJHG offer members?

Bruce: When you’re reading AJHG, you’re looking at the final product of an intense team process. Our staff and editorial board share a strong sense that the papers should represent as carefully vetted a story as possible, which happens at every step from submission to review to acceptance and editing of manuscripts. AJHG and Cell Press put in a lot of effort to ensure reliability of the findings we publish.

The Journal can also serve as an educational forum, for example to help trainees understand the background of why and how a study was put together.

As AJHG is the Society’s journal, we would welcome members’ advice and suggestions on what we can do better, do more of, etc.

ASHG: Are there new areas of emphasis where you’d like to see more submissions?

Bruce: Genetics has advanced tremendously in recent years, and conditions that we could previously only identify can now be treated. I would love to see more submissions on treatment, from preclinical testing to even reporting of clinical trials.

Cancer genetics is another area of interest. Historically, many cancer papers published in AJHG have emphasized germline and Mendelian changes associated with cancer risk. I would like to see more submissions on somatic cancer genetics in addition to work on inherited predisposition to cancer.

ASHG: You’ve also expressed interest in addressing genetics questions that affect society more broadly. Tell us about that.

Bruce: Advances in genetics are bringing up ELSI-related questions, such as how to responsibly use genetic information and how to protect genetic privacy. We look to ASHG to serve as a voice of reason and thoughtful analysis, weighing in on important issues of the day through Society statements. Beyond those statements, I would like to see more Commentaries from individuals in the genetics community, which provide a venue to share personal opinions and generate thoughtful discussion.

Meet 2018 President David L. Nelson

Posted By: David L. Nelson, PhD, ASHG 2018 President

Happy New Year!

I am truly honored to serve as your 2018 ASHG president. I have been involved with the Society for some 30 years – including serving on the Program Committee and as Board Secretary, on the editorial board of The American Journal of Human Genetics, and most recently as AJHG Editor – and am looking forward to working with you in this new role.

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David Nelson, PhD, presents at the ASHG Business Meeting in October 2017.

During that long involvement, human genetics has changed in exciting ways, and the science continues to advance at a pace that is challenging to keep up with. It’s vital that ASHG evolves to keep pace with its members, and a key focus for the upcoming year is to better understand and more effectively address members’ needs. This will involve both reflecting changes in the field and taking an active role in its continued progress. Recognizing the penetrance of genetics into other areas, I look forward to forging partnerships with related fields and organizations.

Our varied programs reflect our values as scientists and geneticists. Every fall, the Annual Meeting gets to the core of our purpose as a Society: to bring the genetics and genomics community together to exchange ideas, methods, findings, and approaches. Our increasing involvement in policy and advocacy addresses the growing prominence of genetics in broader society. And our educational programs for trainees and K-12 students reflect our commitment to the next generation and future of our science.

In 1974, when I took a course in human genetics as a senior undergraduate using Curt Stern’s classic textbook, understanding the complete set of genes that compose humans was a far-off dream, limited by technologies yet to be discovered or invented. Within 25 years, the dream was fulfilled, and the field is now making significant headway toward therapeutically correcting mutations in humans. It has been an immense privilege to have contributed to some of these advances and to have been able to highlight the work of others through AJHG.

What will the next 25 years hold? ASHG must continue to be at the forefront of educating the public as we wrestle with the implications of these advancements, just as it has been from its beginnings in the 1940s. Discoveries will continue to present our field with challenges in education and advocacy, and the members of ASHG will be vital for meeting those challenges.

David L. Nelson, PhD, is 2018 President of ASHG. He is a Cullen Foundation Professor of Molecular and Human Genetics at the Baylor College of Medicine, Associate Director of the BCM Intellectual and Developmental Disabilities Research Center, and Director of the BCM Integrative Molecular and Biomedical Sciences Graduate Program.