A trained developmental geneticist, I currently work within the GREGoR Consortium to develop strategies to increase genetic diagnosis beyond the exome in rare disease. I also serve as the national coordinator and lead of the genetics workgroup for Differences of Sex Development Translational Research Network (DSD-TRN), a 16-site network of clinics and research centers dedicated to serving the population of patients with DSD, a population designated by the NIH as underserved.
Since we became one of founding sites of the NHGRI-supported Genomic Research to Elucidate the Genetics of Rare disease (GREGoR) Consortium, I have led our pilot projects to determine ability of PacBio HiFi and nanopore-based long-read sequencing to identify variants missed by current clinical tests. After a sabbatical at Yale School of Medicine in the Department of ObGyn, working with the DSD-TRN team there, I joined the Institute for Clinical and Translational Science at UC Irvine in July 2024.