This special session organized by the ASHG President addresses a topic the President finds particularly relevant, pressing, or novel in the human genetics and genomics research community.

ASHG Presidential Symposium: Mendelian traits: Thinking about Complexity in the World of “Simple” Genetics

Since the origins of the field of human genetics nearly 125 years ago, there have been robust conversations about how to characterize genetic traits and disorders across the range from simple to complex. The intellectual framework has great importance in how human genetics is applied, particularly in an era when population genetic screening for so-called single-gene disorders has become increasingly feasible. The 2024 Presidential Symposium will feature three leaders across aspects of this topic:  the history of the intellectual debate over simplicity vs. complexity in human genetics; understanding how genetic complexity modifies a paradigmatic simple genetic trait, sickle cell disease; and how randomness (i.e., stochasticity) contributes to phenotypes.

Moderator

Bruce D. Gelb, MD
Dean for Child Health Research, Gogel Family Chair and Director of The Mindich Child Health and Development Institute, Director of the Center for Molecular Cardiology, and Professor of Pediatrics and Genetics and Genomic Sciences at Icahn School of Medicine at Mount Sinai

Speakers

For more information on our session participants, read their biographies.

This special session, organized by the Program Committee, closes the Annual Meeting by featuring leaders in the human genetics and genomics community in a series of exciting talks related to the future of human genetics followed by Q&A.

The Promise and Payoff of Human Genetics and Genomics: Paths from Bench to Bedside

A major goal of human genetics and genomics research is to understand, treat, and correct genetic diseases and alleviate patient suffering. However, moving discoveries from the bench to the bedside can be both daunting and lengthy. The 2024 Distinguished Speakers Symposium 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. Their work has given hope to patients and framed the ethics, policy, and communication around ground-breaking genetics and genomics research.

Moderators:

Speakers

For more information on our session participants, read their biographies.