Research

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Agrawal Laboratory

The Agrawal Laboratory research is focused on determining the genetic and molecular basis of congenital myopathies and various orphan diseases. With the advent of technologies such as whole exome and genome sequencing, we are able to identify novel genes at a rapid pace and work to determine the functional basis of disease so that we can find appropriate therapies and diagnose them at the earliest possible time.

Research Projects

  1. 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.
  2. 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.
  3. 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.
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