Rare Disease Institute

Our team works together across a number of projects using a team/collaboration approach. This has led to the development of a number of devices for detection of biomarkers of disease in PKU, hyperammonemia and maple syrup urine disease. These devices were licensed for U.S. Food and Drug Administration approval and manufacture in 2016.

There are a number of therapeutic projects underway. The recombinant enzyme Phenylalanine Dehydrogenase derived from thermostable bacteria has been licensed for rapid development as an oral therapy for PKU. Working with Hemoshear Therapeutics, the team has developed a novel use for explanted human livers from patients with inborn errors of metabolism for deep molecular phenotyping and testing. This has led to the identification of targets and chemistries for the treatment of acidemia.