The Genomic Medicine Laboratory focuses on the discovery, genomic, and biochemical characterization of rare neuropsychiatric diseases for the benefit of families, which can include extensive clinical evaluation in the George A. Jervis Clinic.
Ongoing projects in the laboratory include:
- Detailed phenotyping and characterization of families with TAF1 syndrome, KBG syndrome, and NAA10- and NAA15-related syndromes
- Development of patient registries to enable natural history studies
- Functional studies of mouse models and patient-derived cells from NAA10- and NAA15-related syndromes, including the use of conditional knockout alleles
- Collection of new rare disease families, followed by exome and/or whole genome sequencing to identify novel disease-contributing mutations
- Participation in natural history data collection and drug trials for new targeted treatments for Fragile X syndrome.
Over the years, we have discovered Ogden syndrome, TAF1 syndrome, and NAA15-related syndrome, and we have contributed to the expansion of the phenotypic spectrum of Ogden syndrome to the broader (and re-named) NAA10-related syndrome. We have also identified novel mutations in previously reported rare diseases, including KBG syndrome (with mutations in ANKRD11) and SCN8A syndrome.