Brendan C. Lanpher, M.D., is a clinical geneticist with particular research interests in inborn errors of metabolism and rare disease diagnostics.
- Rare and complex disorders. Dr. Lanpher works in the Department of Clinical Genomics to evaluate patients with rare and complex disorders to facilitate a genetic diagnosis.
- Hyperammonemia. Dr. Lanpher is interested in genetic contributions to hyperammonemia, a complication of many inborn errors of metabolism. One current research project is investigating risk factors for hyperammonemia in patients after Roux-en-Y gastric bypass surgery.
Significance to patient care
Many patients with rare and esoteric genetic disorders may not receive a clear diagnosis for years. Providing an accurate diagnosis can allow targeted monitoring and treatment specific to their disorder. Specifically, Dr. Lanpher's work in metabolic disorders is focused on improving detection and treatment for patients with hyperammonemia, which will result in improved patient outcomes.