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Bodamer Lab Research | Overview


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 focus includes Kabuki Syndrome, Lysosomal storage disorders (Niemann-Pick Type C) and spontaneous premature birth.


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