Dr. Jan Friedman
Medical Genetics (CFRI/UBC)
I am a medical geneticist, and my research is translational, bridging clinical genetics and basic science. Our work is focused in three major areas:
1. application of advanced genomic technology to identifying the causes of intellectual disability;
2. using genetic epidemiology to elucidate the pathogenesis of the autosomal dominant tumour predisposition syndromes neurofibromatosis 1 and 2; and
3. epidemiological studies of teratogenic risks resulting from maternal treatment with various medications during pregnancy.
I am also interested in the societal implications of genetics and am collaborating in several projects studying various social, economic, and ethical aspects of clinical use of genomic technology.
