Diane Shao

WORK HISTORY

EDUCATION

ABOUT DIANE SHAO

Innovative and productive physician-scientist at Harvard Medical School / Boston Children\'s Hospital with diverse experiences in neuroscience, cancer biology and genomic analysis, and clinical expertise in pediatric neurogenetics.My areas of expertise include gene discovery in human genetics, detection and evaluation of somatic mutations, single-cell genomics, and functional genomics. I have published first author publications in Cell, Genome Research, Genetics in Medicine, and Annals of Neurology, amongst many other co-authored works.Clinically, I lead the Center for Rare Disease Cohort Initiative for brain malformations, aiming to accelerate bench-to-bedside diagnosis for these patients in our center. I see patients in the Brain Development and Genetics interdisciplinary clinic at Boston Children\'s Hospital.My work is highly collaborative, including international collaborations, as well as work with large centers such as the Broad Institute Genetic Perturbations Platform (Ph.D.) and more recently the Broad Center for Mendelian Genomics. I value honesty, integrity and commitment to excellence. I value mentorship, and have directly mentored MD-PhD students, undergraduates, residents and fellows of diverse ethnicity and genders in successful research activities.