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Rapid, genetically tailored N-of-1 neurotherapeutics: a case study in Batten disease

Air date: Monday, March 26, 2018, 12:00:00 PM
Time displayed is Eastern Time, Washington DC Local
Description: NIH Neuroscience Series Seminar

Dr. Yu’s laboratory leads genome-wide searches for rare single-gene causes of autism to reveal ASD’s underlying genomic architecture, to understand its neurobiological causes, and to illuminate possible treatments. For instance, they are studying whole exome sequencing data from a large cohort of patients recruited via the Autism Sequencing Consortium, and have uncovered a striking enrichment of gene knockouts, especially in girls, and several dozen novel candidate genes, including several of special neurobiological interest responsible for glutamatergic and serotonergic signaling.

Their laboratory has identified other rare mutations that link together classic neurobiological signaling pathways with previously unappreciated human phenotypes, including WDR62 (microcephaly and centriole duplication), DHCR24 (autism and cholesterol biosynthesis), and GUCY1A3/GUCY1B3 (linking intellectual disability and nitric oxide signaling).

They work on methods and models for deployment of genomics in the care of patients and conversely, accelerating translational discovery by integrating research with patient care. These include a pilot project to integrate genome sequencing into the bedside care of sick patients in the NICU, and a study to evaluate genome sequencing as a replacement for newborn screening.

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Author: Timothy Yu, M.D., Ph.D., Boston Children's Hospital, Harvard
Runtime: 1 hour