Center for Human Genetic Research and Program in Medical and Population Genetics, Massachusetts General Hospital, Harvard Medical School, and Broad Institute of Harvard and M.I.T.
Dr. Talkowski is an Assistant Professor of Neurology (Genetics), Psychiatry, and Pathology at Massachusetts General Hospital, Harvard Medical School, and the Broad Institute of Harvard and MIT. Dr. Talkowski’s research program is dedicated to exploring the impact of genomic variation on human disease, particularly human neurodevelopmental and neuropsychiatric disorders, as well as the application of innovations in genomics technology to clinical diagnostics. Dr. Talkowski has performed seminal studies to introduce sequencing resolution into the field of cytogenetics and define new classes of complex genomic variation that were otherwise cryptic to conventional technologies. His laboratory has also discovered and characterized a significant number of novel genes contributing to autism and human neurodevelopmental disorders, and has explored the use of whole-genome sequencing in prenatal diagnostics.
The seminar will describe a series of studies seeking to translate basic genomics discoveries into meaningful improvements in understanding the etiology and diagnosis of human disease. These studies have provided a glimpse into the landscape of chromosomal abnormalities at sequence resolution, they have defined novel classes of genomic variation that are remarkably common in the subjects with neurodevelopmental abnormalities such as autism, and they have characterized the functional genomic consequences of these genomic variations through genome editing using in vitro iPS models. They also describe an innovative new approach to engineer recurrent, reciprocal genomic disorders mediated by segmental duplication in the human genome. Finally, these studies will discuss the pursuit of high-resolution sequencing methods to displace conventional genetic testing methods in prenatal and pediatric diagnostic practice, some of which were developed over 50 years ago and are still in use today.
Host: Georgy Bakalkin
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