Michael Talkowski is associate professor of neurology (genetics) at Harvard Medical School and the Center for Genomic Medicine at Massachusetts General Hospital and an associate member of the Broad Institute of the Massachusettes Institute of Technology and Harvard where he directs the Broad Structural Variation and Assembly Group. His research has led to paradigm-shifting discoveries that have already left an enduring mark on the field of genetics and genomics. His discovery of the widespread genomic complexity associated with cytogenetic abnormalities, and his characterization of the phenomenon of balanced chromothripsis (i.e., localized chromosome shattering and reorganization) in the constitutional genome has led to entirely new and fundamental classes of genomic variation. He followed this work with the first-ever application of whole-genome sequencing for prenatal diagnosis in which he obtained a sequence-based diagnosis of CHARGE syndrome in a developing fetus that could not have been determined by methods such as ultrasound or conventional genetic techniques. The diagnosis of CHARGE syndrome was confirmed at birth, demonstrating the clinical utility of highthroughput sequencing technologies for prenatal testing. The importance of Talkowski’s pioneering work is reflected in the current curriculum at Pitt Public Health, where students are being prepared for a near future when prenatal whole-genome sequencing will be a routine component of clinical practice.
Talkowski has made equally important discoveries in the area of autism genetics, including the discovery of many autism-related genes based on small structural variations in the genome. Moreover, he was an early leader in developing methods to characterize the efficiency and off-target effects of genome editing technology, such as the CRIPSR/ Cas9 system, and has developed computational and bioinformatics tools for genomic analysis. His research has been published in The New England Journal of Medicine, Cell, Nature, Nature Genetics, Nature Neuroscience, Cell Stem Cell, and The American Journal of Human Genetics. In addition to his research achievements, Talkowski has shown a passion for the career development of his trainees, having mentored 25 postdoctoral fellows and doctoral students, many recognized for their research excellence.
Talkowski earned his PhD in human genetics in 2008 from Pitt Public Health.