The Texas-based non-profit organization Elijah’s Project for Hope has awarded Bryn Webb, MD, a two-year research grant in the amount of $282,553 to investigate a rare genetic disorder that results from mutations in the WARS2 gene. The research period is January 1, 2023, through December 31, 2024. Webb is an associate professor in the Division of Genetics and Metabolism in the Department of Pediatrics at the University of Wisconsin School of Medicine and Public Health.
The neurological disease caused by WARS2 gene mutations affects children and impairs their ability to synthesize tryptophan-tRNA, which is required to produce proteins in the mitochondria. The disorder is known to manifest early in life, typically in the first year, and causes profound global developmental delay, lack of control of body movement (ataxia), and tremors. Lactic acidosis, intellectual disability, and epilepsy may also be present. The abnormal movements are similar to an early onset form of Parkinson’s disease.