"Actionable" Genetic Findings in an Era of Gene-Targeted Therapies - Timothy Yu, MD, PhD скачать в хорошем качестве

"Actionable" Genetic Findings in an Era of Gene-Targeted Therapies - Timothy Yu, MD, PhD

2021 NBS Research Summit - Day 3 Speaker: Timothy Yu, MD, PhD - Boston Children's Hospital and Harvard Medical School Neurogeneticist Title: "Actionable" Findings in an Era of Gene-Targeted Therapies Summary: Advances in genome sequencing have revolutionized our ability to understand and diagnose of genetic disease. Advances in therapeutic platforms are transforming our ability to treat even the rarest genetic diseases, and some technologies may someday allow us to tailor treatments to patients at the individual level. I will present early case studies in gene-targeted, individualized medicines, drawing on recent examples for patients with Batten disease, amyotrophic lateral sclerosis, and Ataxia Telangiectasia, and discuss how these capabilities may alter how we think about the “actionability” of genetic findings, the risk/benefit calculus of early detection, and newborn sequencing. Dr. Yu's Bio: Timothy Yu, MD, PhD, 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. He obtained his undergraduate degree in Biochemistry at Harvard College, MD and PhD degrees at UCSF, and completed 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. To learn more about NBSTRN, visit https://nbstrn.org/.