Wednesday, January 31st, 2024

12:00PM-1:00PM

Join in person or via Zoom Meeting



https://partners.zoom.us/j/5823462701

*Participant Instructions

The ticking DNA clock: Somatic expansion of a disease-cutting DNA repeat in Huntington’s disease pathology

Steven McCarroll, Ph.D. 

Dorothy and Milton Flier Professor of Genetics

Harvard University

Institute Member of the Broad Institute

 


Steve studied mathematics and economics in college, neuroscience for his Ph.D., then postdoc’d in human genetics. As a graduate student in Cori Bargmann’s lab, Steve liked experimental biology but wanted it to be faster – and to turn biology into "big data" problems that would present endless analysis puzzles. As a postdoc with David Altshuler and Mark Daly, Steve loved human genetics and genomics – but wanted to figure out how genetic variation actually causes human biology to vary from person to person. After starting his own lab at Harvard Medical School, Steve and his team set about to try to bring more areas of biology and genetics into “big data” problems: They invented the main technology now used for single-cell genomics (originally called “Drop-seq”, and now used in a wide variety of droplet-based single-cell platforms such as those from 10X Genomics). They invented computational ways to recognize somatic mutations in people’s genome sequence data, and discovered clonal hematopoiesis – a common health condition involving somatic mosaicism of the blood. The lab’s main focus though is trying to understand the biology of adult-onset brain disorders, by blending human genetics with new, data-intense ways of studying brain tissue. They showed that the human genome’s strongest common genetic association in schizophrenia – involving the Major Histocompatibilty Complex locus – arises not from HLA genes, as long believed, but from complex variation of the complement component 4 genes. This discovery helped shift thinking about schizophrenia from being a potentially immune-related disorder to being one in which synaptic biology is central. Steve and his lab are currently working to uncover the biology underlying schizophrenia, Huntington’s Disease and other disorders of the adult brain, and to further develop single-cell genomics technologies to analyze many more aspects of biology. Steve is the Dorothy and Milton Flier Professor of Genetics at Harvard University, and an Institute Member of the Broad Institute. He procrastinates by goofing off with his two kids.


Join in person in the Marshall Wolf Conference Center or via Zoom https://partners.zoom.us/j/5823462701


*Lunch will be served for in-person attendees


Steps to claim CME credits for BWH Neurology Grand Rounds:

Send code to 1-857-214-2277.


*Note the code will be released when it is made available

For more information about BWH Neurology Grand Rounds 2023-2024 click here

If you have any questions about the process for receiving CME credit, please contact the MGB Office of Continuing Professional Development (CPD) at PartnersCPD@partners.org or visit their website here.


Recordings of past seminars


February 14, 2024

Mill Etienne, M.D. 

Bias, Blind Spots and The Brain: Moving from Agnosia to Aphasia

For questions and to submit feedback, please contact Seminar Directors Tracy Young-Pearse, Ph.D. and William R. Renthal, M.D., Ph.D.

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