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Titre:bodamer lab – in search of the molecular underpinnings of human disease

La description :bodamer lab in search of the molecular underpinnings of human disease home research roya kabuki program kabuki syndrome survey roya kabuki program faq publications meet the team donate links bodamer l...

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Ce rapport est mis à jour en 09-Sep-2018

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bodamer lab in search of the molecular underpinnings of human disease home research roya kabuki program kabuki syndrome survey roya kabuki program faq publications meet the team donate links bodamer lab home research roya kabuki program kabuki syndrome survey roya kabuki program faq publications meet the team donate links the bodamer laboratory – 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 spontaneaous premature birth. read more -- recent kabuki friends crushed the walk! june 12, 2018 team kabuki is half way there! june 5, 2018 the roya kabuki team is preparing for ohio! april 30, 2018 read lab events news roya kabuki events contact us: bodamerlab@childrens.harvard.edu for information on the roya kabuki program: kabuki@childrens.harvard.edu 857-218-kbki (5254) evolve theme by theme4press • powered by wordpress • photo © roberto taddeo

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