Timothy Yu, MD, PhD
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Timothy Yu, MD, PhD
Assistant Professor in Pediatrics, Harvard Medical School
Principal Investigator, Boston Children's Hospital
Associate Member, Broad Institute

Dr. Yu completed his undergraduate degree at Harvard College, his MD and PhD degrees from the University of California at San Francisco, neurology residency training at Massachusetts General Hospital and Brigham and Women’s Hospital, and neurogenetics fellowship at Massachusetts General Hospital and Boston Children’s Hospital. He joined the Boston Children's Genetics and Genomics faculty as an instructor in 2010 and independent investigator in 2013. He is an Assistant Professor at Harvard Medical School. Dr. Yu also co-founded Claritas Genomics, a subsidiary of Boston Children's, devoted to the practice of pediatric genomic medicine. His primary research focus is applying genetics and genomics to understanding the neurobiological bases of autism.

Research Overview of The Yu Lab

1. Autism and neurodevelopmental genetics: The Yu lab conducts genome-wide and world-wide searches to find the genes that are responsible for autism spectrum disorders (ASDs) and other neurodevelopmental conditions. We have had a particular emphasis on biallelic/recessive mutations (i.e., impacting both copies of a gene) in ASD, and have uncovered a striking enrichment of biallelic gene disruptions in affected individuals, especially in girls.

2. Rare diseases and translational genomic medicine: We are passionate about finding ways to bring genomic tools to the bedside to help care for patients with genetic disorders. These projects range from the deployment of genome sequencing in the neonatal intensive care unit to the design and delivery of genome-guided therapeutics for sick children.

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