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

Levy S, Wisk LE, Chadi N, Lunstead J, Shrier LA, Weitzman ER. Validation of a single question for the assessment of past three-month alcohol consumption among adolescents. Drug and alcohol dependence 2021.

Wu F, Xiao A, Zhang J, Moniz K, Endo N, Armas F, Bonneau R, Brown MA, Bushman M, Chai PR, Duvallet C, Erickson TB, Foppe K, Ghaeli N, Gu X, Hanage WP, Huang KH, Lee WL, Matus M, McElroy KA, Nagler J, Rhode SF, Santillana M, Tucker JA, Wuertz S, Zhao S, Thompson J, Alm EJ. SARS-CoV-2 RNA concentrations in wastewater foreshadow dynamics and clinical presentation of new COVID-19 cases. The Science of the total environment 2021.

Weber GM, Zhang HG, L'Yi S, Bonzel CL, Hong C, Avillach P, Gutiérrez-Sacristán A, Palmer NP, Tan AL, Wang X, Yuan W, Gehlenborg N, Alloni A, Amendola DF, Bellasi A, Bellazzi R, Beraghi M, Bucalo M, Chiovato L, Cho K, Dagliati A, Estiri H, Follett RW, García-Barrio N, Hanauer DA, Henderson DW, Ho YL, Holmes JH, Hutch MR, Kavuluru R, Kirchoff K, Klann JG, Krishnamurthy AK, Le TT, Liu M, Loh NHW, Lozano-Zahonero S, Luo Y, Maidlow S, Makoudjou A, Malovini A, Moal B, Morris M, Mowery DL, Murphy SN, Neuraz A, Ngiam KY, Okoshi MP, Omenn GS, Patel LP, Pedrera-Jiménez M, Prudente RA, Samayamuthu MJ, Sanz J, Schriver ER, Schubert P, Serrano-Balazote P, Tan BW, Tanni SE, Tibollo V, Visweswaran S, Wagholikar KB, Xia Z, Zöller D, Kohane IS, Cai T, South AM, Brat GA. International Changes in COVID-19 Clinical Trajectories Across 315 Hospitals and 6 Countries: a 4CE Consortium Study. Journal of medical Internet research 2021.

Mandl KD, Perakslis ED. HIPAA and the Leak of "Deidentified" EHR Data. Reply. The New England journal of medicine 2021.

Rees CA, Monuteaux MC, Herdell V, Fleegler EW, Bourgeois FT. Correlation Between National Institutes of Health Funding for Pediatric Research and Pediatric Disease Burden in the US. JAMA pediatrics 2021.