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SNIP1/PMRED Natural History Study

Dr. Ammous is leading a natural history study on a disorder known as SNIP 1 or PMRED (PsychoMotor Retardation, Epilepsy, and Dysmorphism). Currently this genetic disorder is only known among the Amish, however there is very little published information. Dr. Ammous’s goal is to expand the available information so other geneticists can better diagnose and treat patients with PMRED.

MYBPC3 Gene

Dr. Ammous is collaborating with Parkview Health on a study of cardiac issues and associated outcomes in patients with a specific mutation in the MYBPC3 gene. This is an autosomal dominant mutation that increases the risk for hypertrophic cardiomyopathy and sudden cardiac death.

GM3 Synthase Deficiency, Propionic Acidemia

Dr. Ammous is participating on work groups studying GM3 Synthase Deficiency and the Amish variant of Propionic Acidemia.