Timothy Yu, MD, PhD



Dr. Yu is a neurogeneticist at Boston Children’s Hospital and Harvard Medical School. He obtained his undergraduate degree in Biochemistry at Harvard College. As a MD-PhD student at UCSF, he used molecular genetics to elucidate basic mechanisms of neuronal attraction and repulsion in the wiring of the C. elegans nervous system, and authored or co-authored papers in Science, Neuron, Nature Neuroscience and Nature Reviews Neuroscience. He then completed neurology residency at Massachusetts General Hospital and Brigham and Women’s Hospital. He joined the faculty in the Division of Genetics and Genomics at Boston Children’s Hospital, and is currently Associate Professor at Harvard Medical School and an Associate Member of the Broad Institute. He leads a cross-disciplinary research group that operates at the intersection of genomics, neurobiology, and bioinformatics. Tim’s group was one of the first in the field to deploy high throughput sequencing methods for human genetics, and today continues to use advanced sequencing and analytics to understand the genetic architecture of autism, and other disorders of brain development. His lab has also translated these tools to the hospital, conducting analyses of rapid-turnaround genomic sequencing in both the neonatal intensive care unit and the newborn nursery. Finally, Tim’s group has pioneered disruptive approaches to accelerating treatments for orphan genetic diseases. Beginning with a young girl with Batten disease (a progressive, fatal, neurodegenerative disorder), his team demonstrated it was possible to go from genetic diagnosis to development, testing, and deployment of a novel investigational drug, using an intrathecally delivered, patient-customized oligonucleotide, in just one year’s time. His laboratory continues to work with clinicians, scientists, industry, policymakers, rare disease advocates, and the FDA to streamline this path as an option for children suffering from rare, orphan diseases, and currently has five clinical therapeutic programs in the IND or pre-IND phase for individuals with ultra-rare, orphan neurogenetic conditions.


  • Staff Physician, Division of Genetics & Genomics and Department of Neurology, Boston Children’s Hospital
  • Associate Professor, Harvard Medical School
  • Associate Member, Broad Institute of MIT and Harvard
  • Scientific Advisory Board, Mila’s Miracle Foundation
  • Scientific Advisory Board, Dutch Center for RNA Therapeutics
  • External Consultant Board, Ultra Rare Disease Gene Therapy Network, National Institute of Neurological Disorders and Stroke