Chief, Clinical Cytogenetics · Brigham and women's Hospital · company speakers →
I am an ABMGG-certified Clinical Cytogeneticist interested in both inherited and acquired cytogenetic abnormalities. My research background includes identification of key genes involved in abnormal human development. I also contributed to several landmark studies in cancer genetics and among these is identification of the tumor suppressor gene, PTEN. I have studied genomic changes in both pediatric and adult primary CNS tumors and also contributed to the analysis of key genomic changes in lymphoma. I led the successful translation of basic research findings into clinical tests offered through the Brigham & Women's Hospital (BWH) Center for Advanced Molecular Diagnostics. Locally, I served as an ABMGG laboratory fellowship Program Director for 20 years, while also participating in several local, regional, and national courses focused on the genetics of disease. Nationally, I have been active on ACMG and APHMG Committees and served for several cycles as an item writer and then Clinical Cytogenetics Examination Book Chief. I was elected to the ABMGG Board of Directors, with which I completed a two-year term as Chair. Finally, I was a member of the ACGME Milestones Committee and the Medical Genetics and Genomics Review Committee. Currently, I am the Chief of Clinical Cytogenetics at BWH and, in January 2025, began work as the CEO of the American Board of Medical Genetics and Genomics.
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