– Where the Bench Meets the 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 laboratory, located at Boston Children’s Hospital, has 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 current research focuses on disorders of transcriptional regulation including Kabuki Syndrome and Lysosomal storage disorders such as Niemann-Pick Type C. Read more