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

Diossy M, Sztupinszki Z, Borcsok J, Krzystanek M, Tisza V, Spisak S, Rusz O, Timar J, Csabai I, Fillinger J, Moldvay J, Pedersen AG, Szuts D, Szallasi Z. A subset of lung cancer cases shows robust signs of homologous recombination deficiency associated genomic mutational signatures. NPJ precision oncology 2021.

Abman SH, Mullen MP, Sleeper LA, Austin ED, Rosenzweig EB, Kinsella JP, Ivy D, Hopper RK, Usha Raj J, Fineman J, Keller RL, Bates A, Krishnan US, Avitabile CM, Davidson A, Natter MD, Mandl KD, . Characterisation of Pediatric Pulmonary Hypertensive Vascular Disease from the PPHNet Registry. The European respiratory journal 2021.

Lu FS, Nguyen AT, Link NB, Molina M, Davis JT, Chinazzi M, Xiong X, Vespignani A, Lipsitch M, Santillana M. Estimating the cumulative incidence of COVID-19 in the United States using influenza surveillance, virologic testing, and mortality data: Four complementary approaches. PLoS computational biology 2021.

Aiken EL, Nguyen AT, Viboud C, Santillana M. Toward the use of neural networks for influenza prediction at multiple spatial resolutions. Science advances 2021.