The goal of the BSF Research Program is to foster the discovery and development of therapies to alleviate suffering and prolong life for individuals affected by Barth syndrome. Since 2002, the Barth Syndrome Foundation Research Grant Program has awarded a total of USD $5.1 million via 115 research grants to 68 principle investigators worldwide in order to better understand this rare X-linked genetic disease characterized by cardiomyopathy, growth delay, muscle hypoplasia, neutropenia and extreme fatigue.
Awarded to Associate Professor Vishal Gohil of Texas A&M University for $50,000 over one year, this discovery science project aims to understand how levels of calcium, mature cardiolipin (CL), and energy generation play a role in Barth syndrome. By using the highly modifiable yeast system, Dr. Gohil will probe what happens with reduced levels of mature CL (which is what happens in Barth syndrome) and its subsequent impact on the amount of calcium inside and outside of the mitochondria. Studying this relationship may further shed light on why Barth syndrome mitochondria produce lower levels of energy.
The Gohil lab was one of four labs, out of 15 applicants, chosen in the world to receive this competitive and prestigious award. Congratulations, Dr. Gohil!