ICG2013
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Michael E. Talkowski
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Harvard Medical School
USA
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Biography:
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| Dr. Talkowski received his Ph.D. in Human Genetics and trained as a postdoctoral fellow at Harvard Medical School, Massachusetts General Hospital, and the Broad Institute under James F. Gusella, Ph.D. Dr. Talkowski’s research is focused on understanding the genetic etiology of complex neurodevelopmental and neuropsychiatric disorders. His group incorporates the development of molecular, bioinformatic, and statistical methods to delineate strong effect mutations in the human genome and to characterize their consequences at the level of individual genes, pathways, and phenotypic outcomes. These studies have uncovered genes disrupted by chromosomal aberrations contributing to autism and neurodevelopment, revealed the astonishing complexity that can result from apparently balanced abnormalities such as local chromosomal shattering or ‘chromothripsis’ in the human germline, and narrowed previously identified genomic disorder regions to single genes contributing to the phenotype. His studies have also supported a degree of shared genetic etiology between autism, neurodevelopment, and later-onset psychiatric disorder such as schizophrenia. Most recently, his group applied a low-cost whole-genome sequencing approach to the clinical delineation of chromosomal aberrations during prenatal gestation. Dr. Talkowski is supported by the National Institutes of Health, the Simons Foundation for Autism Research, The NLM Family Foundation, the Charles Hood Foundation, the March of Dimes, and NARSAD. |
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