After training in pediatrics, pediatric cardiology, and medical genetics, I have the honor of working as a medical geneticist at Mass General for Children. I have a longstanding interest in syndrome delineation, especially those disorders associated with cardiovascular abnormalities; the interface of genetics and advocacy (support) groups; birth defects surveillance, and mentoring trainees to publish. I am dedicated to the care of people with rare genetics syndromes to help them achieve diagnosis, counseling, access treatment and coordinated care. This includes clinical research to define phenotypes, which is necessary to support the pursuit of therapies. The ACMG is an important part of my patient care, advocacy, and education.
For ten years, I have Co-Directed a multispecialty clinic for Turner syndrome, and participated in the 2016 Turner Syndrome Consensus meeting which gave me insights into the planning, execution, and completion of guidelines.
Since 2017, I have Co-Directed (with pediatric cardiologist Dr. Mark Lindsay) the MGH Myhre syndrome clinic, the only multispecialty clinic in North America providing care across the lifespan. Our work is enriched by the people and families in the Myhre Syndrome Foundation who are eager to have guidelines for care and planned for 2023.
I also participate in our HHT Center of Excellence (Genetics and Pediatrics). Other interests include MN1 C-Terminal Truncation Syndrome (MCTT, CEBALID syndrome), Sotos syndrome, Costello syndrome, CHARGE syndrome, Sensenbrenner syndrome (Cranioectodermal Dysplasia), Branchio-Oculo Facial Syndrome, and ABL1-related CHD-Skeletal Malformation Syndrome. I am intrigued by representations of syndromes and birth defects in art and antiquities and what they teach us about humanity.
Outside of my primary work at MGH, I have worked for over 25 years in the field of birth defects surveillance. Since 1997, I've been a consultant to the MA Dept. of Public Health, Birth Defects Monitoring Program, Center for Birth Defects Research and Prevention.