April 8, 2016
Clinical trial participant Jerry DeVries is testing a new treatment for Proteus syndrome, the rare genetic condition he has that causes parts of the body to grow more than they should. This genetic disorder is caused by a mutation of the AKT1 gene and is never inherited. Mr. DeVries is taking the drug in a clinical trial led by Leslie Biesecker, M.D., chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. The drug tries to dial back the level of activation of the gene that is overactive in Proteus syndrome.