PiN Faculty Member - Tim Yu, MD, PhD

Tim Yu, MD, PhD

Assistant Professor of Pediatrics

Boston Children's Hospital
300 Longwood Avenue

Boston, MA 02115
Tel: 617/919-7499
Email: timothy.yu@childrens.harvard.edu
Visit my lab page here.



Our lab’s projects lie at the intersection of genetics, neurobiology, and bioinformatics, which we apply to understand (and treat) rare pediatric neurologic diseases.

Autism genetics and neurobiology: We apply whole exome and whole genome sequencing to study large cohorts (tens of thousands of individuals) of children with autism spectrum disorder, with the aim of discovering new mechanistic insights into its pathogenesis. A focus of our research is the study of ‘human gene knockouts’ — recessive mutations that lead to complete loss of function the impacted gene – which we have shown to be an underappreciated cause of autism. Our work is helping illuminating new neurobiological pathways in autism pathogenesis, linking this condition to classic neurobiological signaling pathways responsible for serotonergic cell fate, axon guidance and interhemispheric brain connectivity, cholesterol biosynthesis, and nitric oxide signaling.

Accelerated genetic diagnostics: We are developing methods and models for applying genomics to the care of patients. For instance, we have conducted a pilot of genome sequencing as a replacement for newborn screening, employed rapid turnaround exome sequencing in the NICU, and developed a unified hospital portal for accessing, sharing, and interpreting human genomic data for clinical and research use.

Individualized RNA therapeutics: Over 30 million patients in the United States live with one of 7000 different rare genetic diseases. While genome sequencing is revolutionizing their diagnosis, 95% still lack effective therapy. Working with patients with fatal, orphan, neurologic diseases, we have demonstrated that for a subset of them it is possible to use RNA-modulating antisense oligonucleotides (ASOs) to dramatically shorten the turnaround time between molecular recognition and therapeutic intervention. We are working to turn ASOs into a platform for the rapid deployment of truly personalized medicines.



Last Update: 9/16/2020



Publications

For a complete listing of publications click here.

 


 



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