Somatic Mutation and Genomic Diversity in the Developing Human Cerebral Cortex
Event Details
- Type
- Special Seminar Series
- Speaker(s)
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Christopher A. Walsh, M.D., Ph.D., Bullard Professor of Pediatrics and Neurology, Harvard Medical School; chief, division of genetics, Boston Children's Hospital; investigator, Howard Hughes Medical Institute
- Speaker bio(s)
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Formation of the human brain requires coordinated cell division, and genes mutated in human “microcephaly” (a severe reduction of cortical neurons) have identified important mechanisms of neurogenesis. Recent studies have identified somatic, “brain-only” mutations affect human brain size and structure, in which mutations that apparently occur during neurogenesis are present in neural cells but are rare or undetectable outside the brain. A major question in neuroscience is whether similar mutations cause “complex” neurogenetic disease, and how commonly neuronal diversity reflects genomic diversity in individual neurons. Dr. Walsh's lab has developed methods for isolating single neurons from the postmortem human brain, amplifying and sequencing the genomes of single CNS neurons, with coverage of more than 90 percent of the genome in most single cells. Sources of human CNS genomic diversity include spontaneous mobilization of L1 retrotransposons, spontaneous point mutations and copy number variation.
Dr. Walsh received his Ph.D. in neurobiology and M.D. from The University of Chicago in 1983 and 1985, respectively. He then completed residencies in internal medicine and neurology at Massachusetts General Hospital and was chief resident in neurology from 1988 to 1989. Dr. Walsh completed postdoctoral work in neurology and genetics at Harvard Medical School from 1989 to 1992 and was hired as assistant professor of neurology in 1993. He is now the Bullard Professor of Neurology and a professor of pediatrics at Harvard, chief of the division of genetics at Boston Children's Hospital and an investigator at the Howard Hughes Medical Institute. Since 1996 he has been chief of the division of neurogenetics at Beth Israel Deaconess Medical Center. Among Dr. Walsh's many honors are the Jacob Javits Distinguished Investigator Award from the National Institute of Neurological Disorders and Stroke, the Jacoby Research Award from the American Neurological Association and the Cortical Discoverer Award from the Cajal Club. He became a felllow of the American Association for the Advancement of Science in 2010.
- Open to
- Public
- Host
- Jeffrey Friedman
- Reception
- Refreshments, 3:45 p.m. - 4:00 p.m., Abby Lounge
- Contact
- Jill Benz
- Phone
- (212) 327-7244
- Sponsor
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Jill Benz
(212) 327-7244
benzj@rockefeller.edu