Pitt Pediatrics is proud to announce that Jerry Vockley, MD, PhD, FACMG, recently earned an R01 from the National Institutes of Diabetes and Digestive and Kidney Diseases (NIDDK) for his research, titled, “Branched chain amino acid metabolism and citrate homeostasis in disease,” looking into genetic disorders in branched-chain amino acids (BCAAs). Vockley is the Director of our Division of Genetic and Genomic Medicine as well as the Cleveland Family Endowed Chair in Pediatric Research. He is also a Professor of Pediatrics and Human Genetics and the Director of the Center for Rare Disease Therapy (CRDC). 
Branched-chain amino acids (BCAAs) are nutrients that play an important role in how the body produces energy and carries out many normal cell functions However, some people are born with rare genetic disorders that prevent their bodies from breaking down BCAAs properly, which can lead to serious health problems. Vockley’s research aims to better understand how these disorders affect cells and to develop new treatments that could improve the lives of people living with these conditions.
The project has three main goals: 1) researchers will study how the proteins involved in BCAA metabolism work together inside cells and how these interactions are disrupted in people with inherited metabolic disorders; 2) they will test a promising new drug that has shown the potential to improve energy production in cells affected by propionic acidemia and methylmalonic acidemia; and 3) they will investigate a rare disorder caused by defects in the mitochondrial citrate transporter and evaluate whether an existing drug, phenylbutyrate, could become an effective treatment.
Together, these studies could lead to a better understanding of rare metabolic diseases and support the development of new therapies. Overall, the goal of this research is to understand why inherited disorders of branched-chain amino acid metabolism cause disease and to identify new therapies that can improve the health and quality of life of affected patients.
Join us in congratulating Dr. Vockley and his lab on this fantastic achievement for this important research. And follow Pitt Pediatrics on Bluesky for updates on this work and other research from our faculty.