IV Congresso Brasileiro de Neurogenética 2025

Convidado


THIMOTHY YU

THIMOTHY YU

UNITED STATES

Dr. Yu is a physician-scientist in the Division of Genetics & Genomics at Boston Children’s Hospital and Harvard Medical School. He leads a research group that works at the intersection of genomics, informatics, and neurobiology to better understand, diagnose, and treat rare neurologic disease. He completed MD-PhD training at UC San Francisco and neurology residency at Massachusetts General Hospital and Brigham and Women's Hospital, and postdoctoral training at Boston Children’s Hospital. His group has been responsible for creating new models for delivering translational genomic medicine: accelerating diagnosis with genomic sequencing in newborns, and pioneering disruptive approaches to precision genomic medicine. In 2018 he led the development of a patient-customized antisense oligonucleotide to treat a young girl with Batten disease, creating a precedent that served as the basis for the first FDA guidance for individualized genomic medicine. His laboratory continues to works closely with patients, foundations, physicians, and regulators to explore and fortify this pathway, launching a series of individualized genetic interventions for three additional orphan diseases. He is founder of the N=1 Collaborative, an independent nonprofit devoted to developing practices for individualized medicine.

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