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Biography
Dr. Friedman is a Professor of Medical Genetics at UBC. He is a clinical geneticist who holds an MD degree from Tulane University and a PhD in Genetics from the University of Washington. Dr. Friedman’s research has led to seminal advances in improving the diagnosis of neurofibromatosis (NF) by enumerating the complex and variable spectrum of its clinical features, and in formulating recommendations for genetic and clinical diagnosis that have led to enhanced standards of patient care. His key research discoveries of novel molecular and cellular hallmarks that distinguish types of neurofibromas, benign tumours that typically arise in these patients, are providing new insights into the pathogenesis and progression of NF.
In the past decade, Dr. Friedman has been a pioneer in the development and application of cytogenetic and genomic tools to understand the genetic causes and clinical consequences, and improve diagnosis of intellectual disability syndromes.
Dr. Friedman is also a recognized expert in teratology, with his recent focus on determining the risk for birth defects arising from maternal anti‐depressant use during pregnancy which provides critical information that is essential for the development of regulatory guidelines for these medications.
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