Dr. Chris Ottolenghi
Maple Syrup Urine Disease (MSUD) is a rare genetic disorder resulting from the dysfunction of an enzyme involved in the degradation of an amino acid called leucine. Available therapies are cumbersome and only partly effective. An ongoing project shows that gene therapy at high doses fully cures a mouse model of this disorder based on standard phenotype. However, translation to the clinic requires more detailed biochemical analyses to adequately evaluate any residual disease.
Genetics of mitochondrial diseases lab
24 Boulevard du Montparnasse