The Biochemical Genetics Laboratory utilizes state-of-the-art instrumental methods to diagnose and monitor patients with inherited metabolic diseases, including disorders of amino and organic acid ...

Each year, the ACMG Foundation for Genetic and Genomic Medicine grants its Next Generation fellowship awards to promising early career professionals in a range of medical genetics and genomics ...

In a recent blog, I discussed the change in nomenclature for the conditions formerly known as Neurofibromatosis type 2 (NF2) and schwannomatosis. This change was based on the results of an ...

Claudia Gonzaga-Jauregui studies molecular diagnostics of rare genetic disorders using genome sequencing and family-based analyses to better understand variants that cause disease. Gonzaga-Jauregui is ...

On Dec. 25, 2002, Lewis Kay was in his lab at the University of Toronto, devising new ways to observe the invisible machinery of life. Or trying to, at least. The large molecules Kay has spent his ...