2025 ACMG Annual Clinical Genetics Meeting
UW- Undiagnosed Disease Program Director Bryn Webb pictured with co-authors at ACMG
2025 ACMG Annual Clinical Genetics Meeting
The UW Undiagnosed Disease Program (UW-UDP) director along with co-authors Jadin Heilmann (UW-UDP) and Emily Mrig (TRANSPERS) presented at the 2025 ACMG Annual Clinical Genetics Meeting and the National Human Genome Research Institute (NHGRI) Training Meeting on their work “Participants’ Experiences with and Perspectives on Genomic Research in an Undiagnosed Disease Program.”
Bryn D. Webb, MD, FACMG
UW-UDP Director
Recent Publications
- An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation
- Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
- Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
- The University of Wisconsin Undiagnosed Disease Program: Unveiling Rare Neurodevelopmental Disorders in Exome-Negative Patients