1. Identification of novel genes mutated in various rare diseases
The goals of the project is to understand the genetic and molecular underpinnings of various orphan diseases include Ohtahara syndrome (a devastating seizure disorder), ROHHAD syndrome (a complex condition associated with rapid-onset obesity in early childhood, hypothalamic dysfunction, hypoventilation and autonomic dysfunction), mitochondrial disorders, various surgical conditions, including congenital pulmonary airway malformations, gastroschisis, various atresias (e.g. esophageal, intestinal), bladder exstrophies.
2. Functional genomics of novel genes
Novel candidate genes identified in various rare diseases are often poorly understood. He is working on determining the function of several novel genes identified by his team. Some of those genes include HBS1L and KIF26B.
3. Role of SPEG and cofilin-2 in skeletal muscle function
Mutations in these genes cause different types of congenital myopathy. He is utilizing conditional knockout mouse models of SPEG and cofilin-2 to determine their function and identify interacting proteins in skeletal muscles.
