1. Therapeutic Development for Classic Galactosemia.
Classic Galactosemia is a potentially lethal disorder, and although such lethal outcome is now largely prevented by newborn screening programs, many patients continue to suffer many long-term, chronic complications such as primary ovarian insufficiency, growth/ developmental delays, and motor disorders. Currently, there are no FDA-approved treatments available to prevent or alleviate these complications. Our long-term goal is to develop novel, safe, and effective therapies to address the unmet medical needs of the patients with this disease.
2. Mouse models of human Phosphoglucomutase I (PGM1) Deficiency.
Deficiency of PGM1 enzyme activity in humans could lead to dysmorphological features, growth restriction, hypoglycemia, abnormal glycogen metabolism and glycosylation, as well as the lethal dilated cardiomyopathy. We are developing novel and relevant animal models to study this disorder in order to better understand the underlying disease mechanisms and lay the foundation for the identification of more effective treatments.
3. Improving long-term outcome of patients with Guanidinoacetate Methyltransferase (GAMT) deficiency.
Human patients with GAMT deficiency suffer from developmental delays, intellectual disability, hypotonia, seizures, autistic-like behavior, abnormal movements. We are currently working on a novel therapeutic approach to improve the quality of life of these patients.
4. Targeting Glycosylation in cancers.
Many cancer cells exhibit abnormal glycosylation patterns and we propose to exploit this unique biological process as a way to discover new anti-cancer treatments that will target only the cancerous cells and leave the normal cells unharmed.
Our current research support come from NIH, Intramural/Departmental Research Fund, Patient Support Groups, and Industrial Contracts.
Division of Medical Genetics,
Department of Pediatrics
University of Utah School of Medicine,
295 Chipeta Way, Salt Lake City, UT 84108, U.S.A.