Chief, Clinical Cytogenetics, Brigham and women's Hospital
I am an ABMGG-certified Clinical Cytogeneticist with interests in both inherited and acquired disorders stemming from cytogenetic aberrations. My research background includes elucidation of both constitutional cytogenetic abnormalities. This work has included the identification of key genes involved in abnormal human development, as well as contribution to several landmark studies in cancer genetics, such as the identification of the tumor suppressor gene, PTEN/MMAC1. I continue to be engaged in the study of genomic changes in both pediatric and adult primary CNS tumors and have also contributed to the analysis of key genomic changes in lymphoma. I led the successful translation of findings from basic research projects into clinical tests that were eventually offered through the BWH Center for Advanced Molecular Diagnostics. Locally, I served as an ABMGG laboratory fellowship Program Director for 20 years, during which time I supervised the training and education of fellows and genetics residents. I have taught in several local, regional, and national courses focused on the genetics of disease. Nationally, I have been active on ACMG and APHMG Committees and have served for several years as an item writer and as Book Chief at the National Board of Medical Examiners (NBME). I served as a member of the ABMGG Board of Directors, including two years as Chair. Finally, I have been engaged in work with the ACGME, where I was part of the Milestones Committee and through which I continue to serve as a member of the Review Committee for Medical Genetics and Genomics.