Piloting Individualised Therapies for Orphan Neurogenetic Disease


Date:   18 Jan 2022 (Tuesday)

Time:   8am – 9am

Format: Zoom Webinar (Click here to register)


Over 300 million patients worldwide live with rare diseases. Genome sequencing is revolutionising their diagnostics, but the great majority still lack effective therapy; creative frameworks are necessary to address these gaps. Join Dr Timothy Yu, a neurogeneticist, in this webinar to understand the development of targeted therapies for rare diseases, as well as to explore the scientific, ethical and regulatory landscape surrounding individualised genomic medicine.


Dr. Yu is a neurogeneticist at Boston Children’s Hospital and Harvard Medical School. His research group works at the intersection of genomics, neurobiology, and bioinformatics, applying these tools to understand (and treat) rare pediatric neurologic diseases. Autism genetics and neurobiology: Dr. Yu’s team applies exome and genome sequencing to study large cohorts of children with autism spectrum disorder, with the aim of uncovering discovering new mechanistic insights into its pathogenesis. One focus is the study of ‘human gene knockouts’ — recessive mutations that lead to complete loss of function the impacted gene – which they have shown to be an underappreciated cause of autism.

Dr. Yu’s work has helped illuminate new neurobiological pathways in autism pathogenesis including serotonergic development, axon guidance and interhemispheric brain connectivity, cholesterol biosynthesis, and nitric oxide signalling.

Accelerated genetic diagnostics: Dr. Yu and his colleagues are developing methods and models for applying genomics to the care of patients, piloting genome sequencing as a replacement for newborn screening, and deploying rapid turnaround exome sequencing in the NICU.

Individualized RNA therapeutics: Dr. Yu’s team is piloting the use of antisense oligonucleotides (ASOs) to develop individualized medicines for children with severe, orphan neurologic diseases, employing regulatory and clinical innovations to dramatically shorten the turnaround time between molecular recognition and therapeutic intervention.

He obtained his undergraduate degree in Biochemistry at Harvard College, MD and PhD degrees at UCSF, and completed a neurology residency at Massachusetts General Hospital and Brigham and Women’s Hospital. He is on faculty in the Division of Genetics and Genomics at Boston Children’s Hospital, and is Associate Professor at Harvard Medical School and an Associate Member of the Broad Institute.