Remote Platform Presentation Due to U.S. Travel Restrictions

Posted by: Nancy Cox, PhD, ASHG President

One of our colleagues selected to give a platform presentation at ASHG 2017 will not be able to join us in Orlando. Arvin Haghighatfard, a graduate student at the Islamic Azad University, is unable to travel from his home in Iran due to new restrictions on travel to the United States.

Throughout my presidency this year, I have spoken out about how the new rules limiting travel to the United States threaten to undermine scientific progress both in the U.S. and elsewhere in the world. Science is an inherently international endeavor and the Society strongly opposes the imposition of undue restrictions on scientists’ travel. As an organization representing human genetics specialists worldwide, we consider international travel a major and integral part of our enterprise.

The difficulties that Mr. Haghighatfard has experienced are exactly the kind of situation we feared. Upon learning of his unfortunate experience, we contacted the Department of State on his behalf to raise our concerns, but without success. Given these exceptional circumstances, I believe it is important that we provide Mr. Haghighatfard the opportunity to present his work, so we have arranged for him to conduct his presentation remotely.

I fear that there may also be other geneticists in Iran or elsewhere who cannot attend the meeting because of the travel restrictions. When we gather in Orlando later this month, I hope we spend a moment to think of those in our global genetics family who are unable to join us.

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.

Inside AJHG: A Chat with Janet Kelso

Posted By: Sarah Ratzel, PhD, Science Editor, AJHG

Each month, the editors of The American Journal of Human Genetics interview an author(s) of a recently published paper. This month, we check in with Janet Kelso, to discuss the paper, “The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.”

20171010_AJHG-Neanderthals
A Neanderthal scene re-created by research group members. (courtesy Dr. Kelso)

AJHG: How did you begin working on this project? 

Janet: We previously studied regions of the genome where there is evidence for Neanderthal DNA in the genomes of present day non-Africans and had inferred, based on the functions of genes nearby to these Neanderthal segments, the influence of Neanderthal DNA by looking at predicted gene functions and at changes in gene expression.

However, directly identifying associations between Neanderthal DNA and phenotypes requires access to large datasets that provide both genetic information as well as well-characterized phenotypes in very large numbers of people. Such datasets were not available until quite recently. In 2016, a study from the Capra group looked specifically at the influence of Neanderthal alleles on disease phenotypes by using medical records for over 25,000 people. They identified a number of really interesting associations between Neanderthal DNA and disease risk. We were interested in extending this idea to include non-disease phenotypes in order to determine what influence Neanderthal DNA might have on ordinary variation in people today.

Because Neanderthal alleles are rather rare in people today, we need to have a really large number of people. The UK Biobank pilot study now provides such an extensive resource, including genetic information as well as information about hundreds of common phenotypes in more than 100,000 individuals. Therefore, we were finally able to investigate the impact of Neanderthal alleles on common phenotypes in modern humans.

AJHG: What about this paper most excites you? 

Janet: A notable aspect of our study is that the growing move to collect both genotype and phenotype information in biobanks, such as the UK Biobank, now provides us with the ability to answer not only biomedical questions but also to understand the evolutionary history of modern human traits.

We were able to determine directly the effect of Neanderthal DNA on the phenotypes of people today. Our findings are consistent with previous inferences that genes involved in skin and hair biology were strongly influenced by Neanderthal DNA. However, in those previous studies it wasn’t possible to determine what aspect of skin or hair biology was affected. We were able to show that it is skin and hair color and the ease with which one tans that are affected.

It was somewhat surprising that we observe multiple different Neanderthal alleles contributing to skin and hair tones. Some Neanderthal alleles are associated lighter tones and others with darker skin tones, and some with lighter and others with dark hair colors. This may indicate that Neanderthals themselves were variable in these traits.

A number of the phenotypes to which Neanderthal DNA contributes in people today seem to be related to sunlight exposure. For example we see contributions to skin and hair pigmentation, mood, sleeping patterns, and smoking status. It is therefore tempting to speculate that Neanderthal contributions may have been important in our adaptation to a modified sunlight regime during the colonization of Eurasia.

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

Janet: Our study is notable in that it shows the enormous benefits provided by biobanks in which both genotype and extensive phenotype information are collected. The use of biobanks in in such studies is relatively new, and demonstrates that resources such as the UK Biobank provide us with the ability to answer not only biomedical questions but also to understand the evolutionary history of modern human traits.

More specifically, we have been able to determine directly the effect of Neanderthal DNA on a very broad range of non-disease phenotypes in people today.

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

The growing amount of genetic data from both archaic and modern humans provides a tremendous opportunity for creative people to tackle interesting questions in understanding the evolutionary basis of modern human traits and diseases.

Janet Kelso, PhD, is a computational biologist and Group Leader of the Minerva Research Group for Bioinformatics at the Max Planck Institute for Evolutionary Anthropology.

No Printed Program at ASHG 2017

Posted By: Pauline Minhinnett, ASHG Director of Meetings

You asked and we listened! To reduce our footprint on the environment, ASHG is no longer offering the full printed Program Guide that we have in previous years. Instead, the most important meeting details, including convention center maps and a schedule overview, will be published in the Program-at-a-Glance. Full information can be found on the official ASHG 2017 Mobile App (available for iOS or Android), Online Planner, and meeting website.

20171003_mobile-app
The ASHG 2017 Mobile App is available for iOS and Android, and as a web version. Check it out!

The online planner and meeting app can help you plan your schedule before the meeting and add to or modify it on site. Our tips:

  • Create an account with the Online Planner to browse and save sessions of interest, create your schedule, and sync across desktop and mobile devices.
  • While on site, you can flag sessions to track continuing education; browse sessions, posters, and exhibit booths by location; and take notes.
  • The app is a helpful networking tool – use it to email speakers and message with other attendees who have opted in to these functions.
  • If you prefer another calendar app, you can export your schedule to any other app supporting .ics files. Similarly, you can add personal meetings and events to your ASHG 2017 calendar.

Prefer the printed versions? No problem! Our Documents and Downloadables page has printable versions of all Program content, as well as other useful materials.

See you in Orlando!

Pauline Minhinnett, CMP, CEM, is ASHG’s Director of Meetings. For more information on ASHG 2017, visit the meeting website.

Innovate Your Genetics Teaching with ASHG’s Revamped BEGIn Program

Posted By: Michael Dougherty, PhD, ASHG Director of Education

You flash the clicker question on the screen and give your students about a minute to read it and vote. Your students don’t realize it, but you know it’s not your average clicker question. The distracters aren’t simply incorrect; they’ve all been carefully designed to reflect common student mistakes or misconceptions. As a result, their answers will tell you not only if students are wrong but precisely why.

“Okay, interesting responses,” you say. “Now, turn to your neighbor and convince her that your choice was the correct one.” You wander the aisle listening for the arguments students offer. You know that when they vote again, more of them will understand the correct answer. They’ve finally gotten the hang of this peer discussion technique. It took a little time and practice, but you’re already seeing improvements in learning.

Class time is valuable, and genetics education research has shown that it’s best devoted to problems and concepts that are most difficult for students. New teaching innovations such as peer discussion and concept inventories are leading to dramatic improvements in student learning in courses where it’s been implemented effectively. The adoption of student-centered teaching in genetics courses lags behind physics, astronomy, and math, but it’s catching on thanks to educational research by some of our own colleagues.

BEGIn Helps Educators Implement Student-Centered Learning

20170928-begin-logoFor a number of years, ASHG has been implementing Building Excellence in Human Genetics (BEGIn)—an intensive two-day workshop for undergraduate, graduate, and professional school genetics faculty, which has received rave reviews from participants (93% excellent or very good). Uptake, however, has been slow because of the difficulty of carving out two days from busy research and teaching schedules. To make the workshop’s content more accessible to more faculty, we’ve split it into two parts: a set of online modules, and a more compact workshop that requires only about six hours.

Content that is more foundational, theoretical, and didactic is now available in three online modules that can be used by faculty members at their convenience. Although this is online, the content isn’t all passive. There are questions and tasks embedded within the presentations to keep faculty engaged and to model some of the techniques you should be using with students.

The workshop has been reserved for the hands-on practice necessary for a confident and successful transition from lecture-based teaching to student-centered instruction. The format is a “situated apprenticeship,” which means you will do the things you’re learning about. ASHG has been conducting the BEGIn workshops on university campuses to eliminate the need for faculty to travel. We are hoping more faculty will now be able to take advantage of this valuable program.

The BEGIn online modules are now available for viewing, and you can arrange an on-campus workshop by emailing education@ashg.org.

Michael Dougherty, PhD, is ASHG’s Director of Education. Learn more about BEGIn and other ASHG programs for genetics education online.

NIH Budget Update and ASHG Advocacy

Posted by: Derek Scholes, ASHG Director of Science Policy

Every year, Congress is required to pass legislation to determine funding levels for federal agencies for the upcoming fiscal year. It is through such ‘appropriations’ legislation that the annual budget for the National Institutes of Health (NIH) is established. The fiscal year (FY) runs from the beginning of October to the end of September the following year, meaning that FY2018 starts next week.

So, since NIH funding is so fundamental for genetics research, what does funding look like for the NIH in the next year? The quick answer is that we do not know and will likely not know for several months. But here is what we do know…

Rally-Med-Res-2017-Cardin
ASHG joined the Rally for Medical Research this month to advocate for increased NIH funding.

Congress has not been able to complete its FY2018 appropriations work, and will not be able to do so by the time the new fiscal year starts next week. To address this, Congress has passed a stopgap ‘Continuing Resolution’, or CR, that continues to provide funding for government agencies until December 8. Essentially, it means that, for the time being, the NIH and other government agencies will continue to operate at approximately the same budget levels as for FY2017.

The CR buys extra time for the U.S. House of Representatives and Senate to finalize the FY2018 budget. While it is difficult to predict what NIH’s budget will be, there are encouraging signs of bipartisan support to increase its budget from its FY2017 level of $34.1 billion. The House has approved legislation that includes a $1.1 billion increase; over in the Senate, the Committee on Appropriations has crafted legislation that would give NIH a $2 billion increase. These actions by Congress are in stark contrast to the proposal of President Trump’s administration, which is for an unprecedented cut of $7.2 billion.

Funding proposals for NIH in FY2018
FY2017 Administration Request House Senate Appropriations Committee
$34.1 B $26.9 B (- $7.2 B) $35.2 B (+ $1.1 B) $36.1 B (+ $2 B)

(B = billion; italicized numbers indicate difference compared with FY2017.)

ASHG recognizes that we need robust, predictable, sustainable federal funding of biomedical research to fuel scientific advances, and is supporting the $2 billion increase proposed by the Senate. Earlier this month, the Society joined many other scientific and patient advocacy organizations in the Rally for Medical Research, a Capitol Hill Day event to advocate for continued NIH funding and, in particular, this $2 billion increase. As a member of the Federation of American Societies for Experimental Biology (FASEB), ASHG is also partnering with other FASEB member societies to advocate for a funding increase this year.

We’ll provide an update when Congress finalizes NIH’s FY2018 budget. In the meantime, I am excited to share that ASHG is currently building a new online Advocacy Center, which will help you speak out and contact your members of Congress about NIH funding and other issues of concern to Society members. More on that to come soon!

Derek Scholes, PhD, is Director of Science Policy at ASHG. Learn more about ASHG activities in genetics policy and advocacy on our website.

Awards and Exhibit Hall Changes at ASHG 2017

Posted By: Carrie Morin, ASHG Exhibits, Sponsorship, and Meeting Marketing Manager; and Pauline Minhinnett, ASHG Director of Meetings

ASHG 2017 features several new initiatives and special features to help attendees connect with the latest human genetics science – and each other – in novel, productive ways.

20170921_new-initiatives
Watch our video on the latest changes and enhancements to the ASHG Annual Meeting.

CoLabs in the Exhibit Hall

CoLaboratories (CoLabs), are exciting new networking lounges and educational theaters in the Exhibit Hall. Organized by high-level themes – clinical, laboratory, and data – these short events are organized by ASHG, partner organizations, and exhibiting companies. They focus on a single, specific topic or tool, and are free to attend with no advance registration required.

Each CoLab is paired with a networking lounge to facilitate conversation after the session ends. These events are a great way to meet colleagues and potential collaborators who share your interests, and to learn the basics of new tools to help you reach your goals. Be sure to review the CoLab calendar as you start planning your ASHG 2017 schedule!

And don’t forget: the people who staff exhibit booths at ASHG are often your peers! Don’t be afraid to ask them what sessions they find interesting or what new technology has made their jobs easier. They will often share interesting information and remember – they are there for you! They want to talk to you and get your feedback.

Changes to Awards

We’ve also made some changes to the annual Society awards, presented in sessions throughout the meeting. Each award presentation will feature a short lecture by the recipient about his or her current work, past and present challenges, and notable accomplishments. Browse these talks on the schedule of events.

While ASHG’s awards program is over 50 years old, this year’s slate includes our first-ever Early-Career Award, which recognizes scientists in their first ten years as an independent investigator. Finally, we’ve revamped the ASHG/FASEB Mentored Travel Awards Program for Underrepresented Trainees, which now includes a substantial mentoring component. Congratulations to this year’s 13 awardees!

Check out our website for details on other new initiatives at ASHG 2017. See you in Orlando!

Carrie Morin, CEM, is Exhibits, Sponsorship, and Meeting Marketing Manager at ASHG, and Pauline Minhinnett, CMP, CEM, is Director of Meetings. For more information on ASHG 2017, visit the meeting website.

Explore Orlando: Neighborhoods to Discover

Posted By: Amanda Olsen, ASHG Meetings Assistant

Note: We have received a number of inquiries about any potential impact of Hurricane Irma on ASHG 2017 in Orlando. We are in regular touch with local authorities and convention center staff, who report all facilities should be ready to welcome ASHG attendees as planned, and we will continue to monitor the situation.

Starting to plan your travel to Orlando? Consider taking a day or afternoon to venture out of the city and check out some of these area neighborhoods (listed alphabetically). 

20170823_Audubon Park_Leu House Museum
Leu House Museum, Audubon Park (credit: Visit Orlando)

Audubon Park Garden District – 35-minute taxi ride from the OCCC

This is Orlando’s first “ecodistrict,” a sustainable shopping and dining community. Dine here and experience the rewarding taste of farm-to-table foods, locally sourced ingredients, and award-winning cuisine. Audubon Park offers a myriad of specialty food and drink options, most of them being locally-owned small businesses. In addition to its unique boutique stores and dining, this Orlando gem hosts endless foodie festivals. On the eastern edge of town, Leu Gardens never fails to awe visitors as a vast botanical paradise. Although Audubon Park is geographically small, the possibilities for enjoyment are boundless.

College Park – 30-minute taxi ride from the OCCC

Located in northern Orlando, this town takes its title from its Ivy-inspired street names—visitors will find themselves walking down W Harvard Street to cross Dartmouth Street. If you’re in the mood for a stroll, College Park boasts many paved pathways circling its multiple lakes. If you want to take part in some higher learning to reflect the streets along which you travel, visit the Orlando Science Center or the Orlando Shakespeare Theater. The area is also known for its inimitable shopping boutiques and retro dining locations. Follow a trip to the local thrift shop with a cup of coffee at Shaker’s American Café and sip as you look at their extensive collection of vintage salt and pepper shakers.

20170823_Celebration_MarketSt
Market Street, Celebration, FL (credit: Visit Orlando)

Celebration – 20-minute taxi ride from the OCCC

The “Traditional American Town of Celebration” is exactly as idyllic as you would expect a community developed by Walt Disney to be. The 1950s-inspired neighborhood is a must-see for Disney enthusiasts. Even if you’re not a Disney lover, the town offers many attractions, with most food and shopping located in its Town Center. The town may be uniform in appearance, but the food is diverse enough to serve all tastes. Visit Columbia Restaurant for Cuban and Spanish fare, Ari Sushi for hibachi, or the Town Tavern for a burger and fries.

Lake Nona – 25-minute taxi ride from the OCCC

Lake Nona refers to itself as “a community of and for the future,” and a trip to the town will prove it’s a well-deserved tagline. The community is sprinkled with breath-taking art installations amongst its plentiful shopping and dining options. The Town Center includes brand-name shopping as well as boutique options, while also serving as great spot to sit outside and enjoy the Floridian fall weather. As a town devoted to health and wellness, Lake Nona’s bike share program and lengthy trails are hard to beat. For a unique dining experience, visitors should visit Canvas Restaurant and Market, an American-Latin fusion eatery with an attached market that sells food, drink, household goods, and local artisan crafts.

20170823_WinterPark_gcm_city_of_winter_park_shops10
Shopping in the city of Winter Park (credit: Visit Orlando)

Winter Park – 35-minute taxi ride from the OCCC

The northern Orlando city of Winter Park is an arts-filled area rich in culture and activity. Visit for the day and peruse the art in the Charles Hosmer Morse Museum, walk through the Mead Botanical Garden, or take a stroll in one of the more than 70 parks. If you’re in for a nautical adventure, there are numerous boat tours that take you through the Lakes of Winter Park. With wide-spanning activities from orchestral concerts to luxury shopping to outdoor music festivals, you can always count on finding something to entertain you.