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.

 

Just Launched: A New Advocacy Center for ASHG

Posted By: Jillian E. Galloway, Science Policy Analyst at ASHG

We are delighted to announce that ASHG has a new online Advocacy Center! Developed with members’ needs in mind and the Society’s desire to become more involved in policy and advocacy, the site provides tools and channels for members to learn more and share their views directly with legislators.20171013_advocacy-center

The Advocacy Center makes it easy for members to take action by sending customizable messages to Congress on important science policy issues. Members and others can also stay current with press releases and news clips related to ASHG advocacy activities, read recent letters and comments to policymakers, explore blog posts related to policy and advocacy, and check out helpful tools and resources.

ASHG advocates for policies consistent with its policy platform that support scientific discovery, the translation of scientific discoveries into health advances, and the appropriate application of genetics within society. We further support policies that advance the understanding of genetics by healthcare professionals and the public.

To reach these goals, we need your help! Visit our Advocacy Center to connect with Capitol Hill and get your voice heard on a number of significant issues, including supporting NIH funding and opposing genetic discrimination!

Jillian E. Galloway, MS, is a Science Policy Analyst at ASHG. Learn more about ASHG’s activities in Policy & Advocacy.  

Presenting: Your 2018 ASHG Board of Directors

Posted by: Staff

We are pleased to announce the results of this year’s American Society of Human Genetics Board of Directors elections. Thank you to all who voted! Members elected a new president-elect, three directors, one early-career director, and one trainee director.

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For details on the new Board members’ background, experience, and research interests, see the Election Bios. The new Board members will assume office on January 1, 2018, and will serve three-year terms.

A warm welcome to our new leaders!

Hurricane Harvey

Posted by: Mona Miller, ASHG Executive Director

As you have likely seen in the news, Hurricane Harvey has caused major flooding and difficult conditions in Houston and the surrounding cities. Our thoughts are with our members, colleagues, the broader scientific community in southeast Texas, and all affected – we hope you and your loved ones are safe.

You may know that The American Journal of Human Genetics editorial office is located in Houston. AJHG’s website notes that their staff is safe, but there might be delays in responding to editorial questions over the next week.

Given that the ASHG 2017 early registration deadline is today, we are providing an extension for those affected by the hurricane. Please email registration@ashg.org for details.

Our thoughts remain with everyone affected.

Revamped for 2017: ASHG/FASEB Mentored Travel Awards for Underrepresented Trainees

Posted by: Kanika Pulliam, PhD, ASHG Educational Programs Manager

This year, ASHG and the Federation of American Societies for Experimental Biology (FASEB) are offering a newly structured travel award for underrepresented* trainees who are full-time undergraduate, graduate, medical students, and postdoctoral/clinical fellows who attend ASHG 2017.

Applications are due August 31, 2017 at 5:00 pm U.S. Eastern Time. Email questions and completed applications to marcssm@faseb.org.

What makes this travel award unique is its goal is to provide engaged and structured mentoring for trainees attending the meeting. This is fostered by assigning each awardee a peer mentor based on common interest.

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Networking and mentoring are important parts of the revamped ASHG/FASEB travel awards. (credit: ASHG)

The mentorship process starts before ASHG 2017 and continues during and after the meeting. Peer mentors will begin communicating with awardees before the meeting through a series of activities, including helping awardees choose events and sessions to attend and establishing their career interests to customize the meeting experience.

During the meeting, awardees will practice their presentations with their peer mentors and receive feedback. Peer mentors will also help awardees identify Exhibit Hall booths to visit based on their career interests, attend a social event together to practice networking, view poster and platform presentations to learn how to ask questions, and critique presentations. After the meeting, peer mentors will follow up with awardees by continuing to provide professional development support.

Peer mentors are selected based on their experience attending the meeting and their proximity in career development to the trainee awardee, which makes the relationship more relaxed. We have selected a diverse group of mentors spanning academia, industry, medicine, science education, and non-profits.

Awardees are required to attend specific trainee events and visit the Career Center to advance their networking skills and professional development. Here are the required events:

Wednesday, October 18

  • Diversity Breakfast, 7:15-8:45am

Choose 1 of the following concurrent sessions:

  • Trainee Professional Development Program (Academic Career Panel), 12:30-1:45pm, OR
  • Trainee-Mentor Luncheon (1), 12:30-1:45pm

Thursday, October 19

Choose 1 of the following concurrent sessions:

  • Trainee Professional Development Program (Passion Won’t Pay the Bills: Planning for a Successful Scientific Career), 12:30-1:45pm, OR
  • Trainee-Mentor Luncheon (2), 12:30-1:45pm

Friday, October 20

Choose 1 of the following concurrent sessions

  • Trainee Professional Development Program (Industry Career Panel), 1-2:15pm, OR
  • Mock NIH Study Section Workshop, 1-2:15pm

The travel award provides up to $1,850 in reimbursable funds for registration and travel. Applicants are required to submit and present (poster/oral) at ASHG 2017. Eligible applicants must be United States citizens or permanent residents with legal status. Trainees can be from minority institutions and historically black colleges and universities (HBCUs) or underrepresented trainees from majority institutions. Preference for the award is given to ASHG members.

* For the purpose of meeting the goals and objectives specified by the FASEB Diversity Resources Program, individuals from groups underrepresented in the biomedical, clinical, and behavioral sciences include: 

  • Individuals from racial and ethnic groups shown to be underrepresented in biomedical research, including Blacks or African Americans, Hispanics or Latinos, American Indians (who maintain tribal affiliation or community attachment) or Alaska Natives, Native Hawaiians, and other U.S. Pacific Islanders (Guam, American Samoa);
  • Individuals with disabilities, defined as those with a physical or mental impairment that substantially limits one or more major life activities; and
  • Individuals from disadvantaged backgrounds [usually undergraduate students], defined as those from a family with an annual income below established low-income thresholds and those who come from an educational environment that has inhibited the individual from obtaining the knowledge, skills, and abilities necessary to develop and participate in a research career.

Kanika Pulliam, PhD, is ASHG’s Educational Programs Manager. Learn more about ASHG’s programs for trainees, including programs at ASHG 2017.

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.