– where bench meets bedside –
One in 10 Americans, or more than 30 million people, live with a rare disease. Worldwide it is estimated that more than 350 million people are affected. A condition is considered rare when fewer than 200,000 individuals are affected, although definitions may vary. 80% of rare diseases have a genetic cause – more than 95% do not have a single FDA approved drug treatment.
Our translational research laboratory, located at Boston Children’s Hospital, is uniquely positioned to address the unmet needs of patients and families with rare disorders. At the interface of Clinical Genetics, Translational and Basic Research we have set out to change the world – one rare disease at a time through a combination of clinical phenotyping, molecular diagnosis, basic and translational research and drug development. Our research focuses on 1) disease gene identification across a broad spectrum of neurodevelopmental disorders; 2) mechanistic insights of disorders of transcriptional regulation with a focus on Kabuki Syndrome and 3) novel therapies. Read more