Plenary 1– Global Trends in Biotech Industry (B)
Date: 22 July (Wednesday) 10:30 – 12:10 (GMT+8)
Venue: 701EF, 7F, TaiNEX2 / Online event platform
Dr. Tim Yu is a neurologist and researcher at Boston Children’s Hospital and holds appointments at Harvard Medical School and the Broad Institute. A graduate of Harvard College, he completed his MD and PhD at UC San Francisco and neurology residency at Massachusetts General Hospital and Brigham and Women's Hospital. He was an early pioneer in molecular and bioinformatic methodology for human genome sequencing and its application to the genetics of human disease. He leads a research group in the Division of Genetics and Genomics that works at the intersection of genetics, informatics, and neurobiology to understand human brain development and advance genomic medicine. He has published broadly in Nature, Science, New England Journal of Medicine, Nature Genetics, Nature Neuroscience, Neuron, American Journal of Human Genetics, among others. 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 diseases.
Speech title & Synopsis
Over 30 million patients in the United States live with a rare disease. Genome sequencing is revolutionizing their diagnosis, but 95% still lack effective therapy. With over 7000 conditions to tackle, new and creative frameworks will be necessary to address this gap. We will discuss the recent case of a young six year old girl who suffered the sudden onset of vision loss, seizures, and neurologic regression after several years of more insidious symptoms. After an extended diagnostic odyssey, her medical team arrived at a diagnosis of CLN7 Batten disease, a rare neurodegenerative disorder of lysosomal storage. No treatments exist for CLN7 Batten disease, and unchecked, it is rapidly progressive and ultimately fatal. We will describe how arriving at a precise molecular diagnosis enabled us to design, test, and deploy a novel, custom-made antisense oligonucleotide drug to try to save her. Implications of this work for the further development of individualized genomic medicine will be discussed.