ASHG to host Genetic Diagnosis & Rare Disease Virtual Symposium

The American Society of Human Genetics (ASHG) will host the Genetic Diagnosis & Rare Disease Virtual Symposium on December 2-3. This initiative ensures that groundbreaking research and clinical innovations are accessible to scientists, clinicians, and educators.

Rare disease patients often face a years-long diagnostic odyssey. The December Virtual Symposium make certain that state-of-the-art methodologies-such as long-read sequencing, RNA-Seq, and federated variant sharing- are accessible worldwide. By offering these resources digitally, ASHG empowers professionals to stay current on emerging technologies, improve patient outcomes, and accelerate discovery.

ASHG recognizes that the pace of discovery in genetics and genomics research demands continuous learning beyond its annual meeting. Through its online programs, ASHG has built a robust digital ecosystem offering webinars, symposia, workshops, and podcasts that bring front-line science directly to members and the global research community year-round. This virtual symposium is a cornerstone of that strategy, reducing barriers to knowledge and fostering collaboration."

Elisha Roberson, PhD, Digital Learning Committee Chair

Over two days, this event will feature 16 talks delivered by leading experts in rare disease diagnosis and genomic technologies. Each session includes interactive Q&A, and attendees can earn up to six CME credits, reinforcing ASHG's commitment to professional development alongside scientific advancement. Keynote speakers include Kiran Musunuru, MD, PhD, MPH and Rebecca Ahrens-Nicklas, MD, PhD who will speak about personalized gene editing therapy, and Helene Cederroth, PhD and Eric Klee, PhD who will speak about the Undiagnosed Hackathon – a collaborative initiative bringing multidisciplinary teams together to solve challenging cases for individuals living with undiagnosed conditions.