Message from the President – Fall Messenger 2024

Bruce D. Gelb, MD, ASHG President
Bruce D. Gelb, MD, ASHG President

I hope to see you in Denver this fall at ASHG 2024. It has been 26 years since the last time ASHG’s annual meeting was held in the Mile High City in 1998 and we have seen a period of growth as researchers meet to exchange ideas and insights, and to network for collaboration and career development. The annual meeting was developed to broaden our community and come together around timely developments in the field. This focus remains a driving principle today providing even more opportunities to present research through posters and as abstract-selected speakers and enriching our scientific community.

The Program Committee met this summer and scheduled our abstract sessions. I’m particularly excited for the diverse talks that will be in the plenary abstract sessions.

Plenary Abstract Session 1 features talks on the latest human genetics research, covering topics such as natural selection in mosaic chromosomes, meiotic recombination in IVF embryos, uniparental disomy in congenital heart disease, long-read sequencing for alternative RNA-splicing, and the benefits of combining biobanks to identify rare variant associations.

Plenary Abstract Session 2 highlights large-scale profiling efforts across various experimental platforms and disease settings. Topics include heritability analysis of environmental risks like air pollution, methylome and omics analysis in cancer, global profiling of Cas9 editing sites, and transcriptomics in rare diseases.

Plenary Abstract Session 3 covers the transition from basic science to clinical practice, including how caQTL can reveal immune response regulation and improve complex disease risk prediction, how genetic variation affects healthcare costs, and the findings of a pilot study on targeted gene sequencing for newborn screening in diverse populations.

What’s Returning and What’s New at ASHG 2024?

The “Distinguished Speakers” symposium is back this year with a slate of exciting speakers seeking to understand, treat, and correct genetic diseases and alleviate patient suffering. The Promise and Payoff of Human Genetics and Genomics: Paths from Bench to Bedside will feature leaders who have made important basic science discoveries and navigated the journey from discovery to drug development, clinical trials, and implementation of new therapies. These areas of genetics and genomics highlight how the community is changing how we work together, how we share tools and data, and how we harness outcomes to help improve human health.

Looking Forward to the Presidential Symposium Lecturers

This year I’m very excited about the ASHG 2024 Presidential Symposium “Mendelian Traits: Thinking about Complexity in the World of “Simple” Genetics.” Collectively, the three speakers and their areas of expertise represent the depth and breadth of our field and community, as they take on a robust conversation about how to characterize genetic traits and disorders across the range from simple to complex.

I selected this topic to pair with my Presidential address, which will focus on the genetic concepts of penetrance and expressivity, specifically, incomplete penetrance and variable expressivity. Generally, we understand that there are three buckets of factors that drive incomplete penetrance and variable expressivity for Mendelian traits. This includes other genetic variants, environmental exposures/epigenetics, and randomness (generally called stochastic effects). Two of the three talks will address one of those buckets: Stanislav Y. Shvartsman, PhD will provide remarks on stochasticism while Athena Starland-Davenport, PhD will discuss genetic modifiers for sickle cell disease. The third speaker, Gregory Radick, PhD is a historian who has focused on the history of our understanding of genetic complexity, dating back to the founding with William Bateson in England, who locked into a huge intellectual debate with Walter Frank Raphael Weldon about this matter; the result of that echoes to the present.

Gregory Radick, PhD
Gregory Radick, PhD
Athena Starlard-Davenport, PhD
Athena Starlard-Davenport, PhD
Stanislav Y. Shvartsman, PhD
Stanislav Y. Shvartsman, PhD

75 Years of AJHG

ajhg 75 Journal coverThis year also marks the 75th anniversary of The American Journal of Human Genetics and we’ll celebrate this at the annual meeting. By celebrating 75 years of ASHG’s established and influential journal AJHG we remind ourselves about the foundation on which our current work rests. Often, revisiting foundational work can result in rediscovering questions that have been lost as the field adapts to rapidly developing technology and techniques. It sheds new light on discoveries and challenges that continue to define the field today. Dr. Bruce Korf, our Editor in Chief, published an editorial about this milestone and I encourage you to read it.  At the meeting you’ll also have a chance to get a limited edition 75th anniversary AJHG tee shirt and meet with members of the editorial team.

In addition to marking this noteworthy occasion, we also are celebrating a four-year anniversary of the launch of ASHG’s open access journal, HGG Advances, which continues to build upon the success of AJHG to craft a broader publishing platform for our Society. HGG Advances has undoubtedly influenced the publication landscape in human genetics and genomics research, and its leadership in terms of innovation continues to be recognized. We are only just gearing up for what promises to be an exciting journey ahead.

Come to the Meeting to Make Connections!

 image of members interacting here.

If you’re looking to grow your network and advance your career, in-person networking events are a great place to start. You can meet new people, learn about new opportunities, build relationships, and get inspired. Highlights for this year include:

  • Networking sessions for attendees interested in phenotypes and genetypes, bioinformatics and computational methods and Emerging Laboratory Technologies.
  • Career development luncheons on publishing strategies, and how to set yourself apart and roundtable conversations on topics of interest.
  • Diversity, Equity and Inclusion Luncheon and Reception
  • Trainee Reception
  • Career Hub, connecting attendees that are hiring with potential employees looking for a job

For more information on expanding your network and exploring exciting career paths at ASHG 2024 go here!

There is so much to look forward to at ASHG 2024. Register now and join us! Share what you’re excited about with your peers on Facebook, X, Instagram, or LinkedIn and use #ASHG24.

 

 

 

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