Timothy Yu

Dr. Timothy Yu is an Assistant Professor in the Division of Genetics and Genomics at Boston Children's Hospital. His research focuses on autism spectrum disorders, neurodevelopmental genetics, and rare diseases, with an emphasis on translational genomic medicine and individualized therapeutics. He completed his undergraduate degree at Harvard College, followed by an MD and PhD in Neuroscience from the University of California, San Francisco. His clinical training includes neurology residencies at Massachusetts General Hospital and Brigham and Women's Hospital, and a fellowship in neurodevelopmental genetics at Massachusetts General Hospital and Boston Children's Hospital.

Dr. Yu's research integrates genome-wide analyses to identify genetic causes of neurodevelopmental conditions and develops genome-guided therapeutics. He leads investigations into biallelic recessive mutations in autism and pioneers clinical applications of genomic sequencing in neonatal intensive care. His work bridges computational genomics, molecular biology, and clinical neurology to advance precision medicine for genetic disorders.

His recent publications (2023-2025) demonstrate a strong focus on individualized genetic therapies, including N-of-1 trial frameworks, antisense oligonucleotide treatments, and novel gene-targeted approaches for neurological and rare diseases. These studies highlight innovations in genomic medicine, therapeutic development, and clinical implementation strategies.

Education:

• Undergraduate: Harvard College (1994)
• MD/PhD: University of California, San Francisco
• Neurology Residency: Massachusetts General Hospital & Brigham and Women's Hospital
• Fellowship: Massachusetts General Hospital & Boston Children's Hospital

Dr. Yu directs the Yu Laboratory, which develops genomic technologies and therapeutic platforms for rare diseases. Current projects include rapid whole-exome sequencing for critically ill newborns and designing customized nucleic acid therapies through collaborative initiatives like the N=1 Collaborative and Rare Therapies Launchpad.