Co-Executive Director, The Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital Powell, Ohio, United States
Description: Twenty five years after the announcement of the human genome reference, the use of genomics and its many permutations is widespread in biomedical research and has yielded a multitude of new discoveries and significant resources. Applying this fundamental toolkit to pediatric disease diagnosis in the clinical setting is has become more widespread, gaining acceptance in terms of the clinical utility for critically ill patients with cancers or constitutional diseases. My lecture will provide an historical overview of progress, current applications and remaining challenges in this technology-driven field, acknowledging the importance of team science.
Learning Objectives:
Inform listeners about the historic underpinnings of next-generation sequencing studies that revealed the genetic etiologies of pediatric cancers based on whole genome sequencing.
Instruct listeners about the use of whole genome sequencing and advanced analytics to identify complex genetic causes of constitutional disease in difficult-to-diagnose pediatric patients.
Inform listeners about clinical programs at the Institute for Genomic Medicine that use clinically validated molecular profiling to augment conventional diagnosis workflows in cancer and constitutional disease settings.
