Area of Research Interest: Genetic and Clinical Studies in Skeletal Dysplasias and Inborn Errors of Metabolism
We are interested in the consequences of gene mutations on skeletal development and homeostasis. We combine studies on mammalian tissue and organ development with clinical research in patients with skeletal dysplasias to develop new treatment approaches for common diseases like osteoporosis, osteoarthritis, and cancer.
We are also investigating gene-nutrient interactions in biochemical genetic disorders like the urea cycle disorders and maple syrup urine disease. By understanding how single gene disorders cause complex metabolic disease, we are developing cell, gene, and small molecule therapies to treat and prevent the long-term complications.