Hyun-Hwan Jeong, PhD, will present his AJHG paper on MARRVEL-MCP, an AI-powered computational tool that simplifies genetic variant interpretation using natural language queries. The platform integrates curated biomedical databases with large language models to accelerate rare disease diagnosis and improve accessibility for non-expert users.

Hector Rodrigo Mendez, MD, will present “RNUopathies: A New Frontier in Genetics,” offering a comprehensive overview of this emerging class of splicing disorders. Building on this foundation, he will discuss his recent findings on how bi-allelic RNU6ATAC variants drive transcriptome-wide minor intron retention and complex multisystem manifestations.

Dr. Sara Cromer and Dr. David Conti will review the commonly used population descriptors, polygenic scores, and social determinants of health measures, identifying the nuances in measurement and interpretation. They will then turn to analytic and ethical considerations for modeling polygenic risk and SDoH jointly across diverse populations.

Robbee Wedow, PhD, will present and discuss his HGG Advances paper on genetics curriculum to refute genetic essentialism.

Drs. Theodore Drivas and Jessica Gold will discuss a large retrospective study of over 14,000 adults evaluating how race and social determinants of health influence access to adult genetics clinics, genetic testing decisions, and diagnostic outcomes. The paper reveals striking disparities in who is evaluated for genetics care—and who ultimately benefits from testing.