Jan Marshall Friedman

Jan Marshall Friedman is a Professor in the Department of Medical Genetics at the University of British Columbia's Faculty of Medicine, with research affiliations at BC Children's Hospital Research Institute. His work bridges clinical genetics and basic science, focusing on genomic technologies to diagnose neurodevelopmental disorders and genetic diseases.

Dr. Friedman's research spans clinical genomics, neurodevelopmental disorders, and genetic epidemiology. His laboratory (Friedman Lab) applies whole genome sequencing and bioinformatics to identify genetic causes of intellectual disability and birth defects. Current projects include the CAUSES Study investigating diagnostic pathways for genetic disorders, and international consortia developing diagnostic criteria for neurofibromatosis syndromes.

His publication record shows consistent contributions to neurofibromatosis research, genomic medicine implementation, and ethical considerations in pediatric genomics. Recent work emphasizes cost-effectiveness of genomic testing, digital decision support tools, and international standardization of diagnostic criteria for genetic conditions.

Dr. Friedman actively supervises graduate students in UBC's Medical Genetics, Bioinformatics, and Genome Science and Technology programs, with research collaborations spanning multiple institutions through consortia like Care4Rare Canada and the Global Alliance for Genomics and Health.

His work occurs within the Medical Genetics Research Unit at Children's & Women's Hospital, contributing to BC Children's Hospital Research Institute's mission of translating genomic discoveries into improved clinical care for children with genetic conditions.