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Dr. Jan Friedman

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.