Prospects for Hyper-Personalized Medicine (Video Available)

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

Hopper RK, Abman SH, Elia EG, Avitabile CM, Yung D, Mullen MP, Austin ED, Bates A, Handler SS, Feinstein JA, Ivy DD, Kinsella JP, Mandl KD, Raj JU, Sleeper LA, . Pulmonary Hypertension in Children with Down Syndrome: Results from the Pediatric Pulmonary Hypertension Network Registry. The Journal of pediatrics 2022.

Wang X, Zhang HG, Xiong X, Hong C, Weber GM, Brat GA, Bonzel CL, Luo Y, Duan R, Palmer NP, Hutch MR, Gutiérrez-Sacristán A, Bellazzi R, Chiovato L, Cho K, Dagliati A, Estiri H, García-Barrio N, Griffier R, Hanauer DA, Ho YL, Holmes JH, Keller MS, Klann MEng JG, L'Yi S, Lozano-Zahonero S, Maidlow SE, Makoudjou A, Malovini A, Moal B, Moore JH, Morris M, Mowery DL, Murphy SN, Neuraz A, Yuan Ngiam K, Omenn GS, Patel LP, Pedrera-Jiménez M, Prunotto A, Jebathilagam Samayamuthu M, Sanz Vidorreta FJ, Schriver ER, Schubert P, Serrano-Balazote P, South AM, Tan ALM, Tan BWL, Tibollo V, Tippmann P, Visweswaran S, Xia Z, Yuan W, Zöller D, Kohane IS, Avillach P, Guo Z, Cai T, . SurvMaximin: Robust federated approach to transporting survival risk prediction models. Journal of biomedical informatics 2022.

Torous J, Stern AD, Bourgeois FT. Regulatory considerations to keep pace with innovation in digital health products. NPJ digital medicine 2022.

Levy S, Wisk LE, Minegishi M, Ertman B, Lunstead J, Brogna M, Weitzman ER. Association of Screening and Brief Intervention With Substance Use in Massachusetts Middle and High Schools. JAMA network open 2022.

Nielsen M, Presti M, Sztupinszki Z, Jensen AWP, Draghi A, Chamberlain CA, Schina A, Yde CW, Wojcik J, Szallasi Z, Crowther MD, Svane IM, Donia M. Co-existing alterations of MHC class I antigen presentation and IFNγ signaling mediate acquired resistance of melanoma to post-PD-1 immunotherapy. Cancer immunology research 2022.