Diane Shao, MD, PhD (SIG Oral Presenter)
Boston Children's Hospital
Dr. Diane Shao is a physician-scientist at Boston Children’s Hospital whose clinical and research expertise focuses on determining the causes of childhood neurogenetic disorders, with specific focus on disorders that result in brain malformations and neurodevelopmental disabilities. One aspect of her work focuses on somatic mutations, those that impact a subset of cells in the body, as it is not yet clear how often such mutations impact human disease or human phenotypic variability. Her studies of somatic mutations involve patient disease cohorts as well as direct interrogation of human brain tissue using single-cell technology. Dr. Shao is also a principal investigator for the Center for Rare Disease Brain Malformations cohort at Boston Children’s Hospital which aims to determine novel genetic causes of brain malformations.