Prospects for Hyper-Personalized Medicine

Speaker: Timothy Yu, MD, PhD, at Boston Children's Hospital

Date: January 11, 2021 at 4:00PM - 5:30PM

Genome sequencing is revolutionizing the diagnosis of rare diseases, but 95% of these conditions still lack effective therapy. With up to 7,000 distinct genetic diseases to tackle, new and creative frameworks will be necessary to meet this need. Recent advances offer the prospect of platform-based therapeutic approaches to certain genetically targetable disorders — in the right circumstances, facilitating the design and deployment of hyper-personalized drugs for conditions affecting as few as even a single patient. The scientific, clinical, ethical, and regulatory implications of these capabilities will be discussed.

Dr. Tim Yu is a Neurogeneticist and Researcher at Boston Children's Hospital, Harvard Medical School and the Broad Institute. He was an early pioneer in molecular and bioinformatic methodology for human genome sequencing and its application to the genetics of human disease. His research group in the Division of Genetics and Genomics works at the intersection of genetics, informatics, and neurobiology to understand human neurodevelopment and advance genomic medicine. Current projects range from human population genetic analyses of autism, to genome sequencing for newborn screening and neonatal ICU care, to the development of individualized genomic medicines for rare pediatric disease.

Publications

Kiang MV, Santillana M, Chen JT, Onnela JP, Krieger N, Engø-Monsen K, Ekapirat N, Areechokchai D, Prempree P, Maude RJ, Buckee CO. Incorporating human mobility data improves forecasts of Dengue fever in Thailand. Scientific reports 2021.

Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. The case for open science: rare diseases. JAMIA open 2020.

Ferenczi S, Solymosi N, Horváth I, Szeőcs N, Grózer Z, Kuti D, Juhász B, Winkler Z, Pankotai T, Sükösd F, Stágel A, Paholcsek M, Dóra D, Nagy N, Kovács KJ, Zanoni I, Szallasi Z. Efficient treatment of a preclinical inflammatory bowel disease model with engineered bacteria. Molecular therapy. Methods & clinical development 2021.

Liu D, Olson KL, Manzi SF, Mandl KD. Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics. Genetics in medicine : official journal of the American College of Medical Genetics 2021.

Diao JA, Inker LA, Levey AS, Tighiouart H, Powe NR, Manrai AK. In Search of a Better Equation - Performance and Equity in Estimates of Kidney Function. The New England journal of medicine 2021.