Abhimanyu Garg, M.D., and Prashant Mishra, M.D., Ph.D., have been recognized for reporting a rare novel genetic disorder that causes rapid aging and discovering the gene variant responsible for the syndrome. Dr. Garg is Professor of Internal Medicine while Dr. Mishra is Associate Professor in Children’s Medical Center Research Institute at UT Southwestern (CRI) and of Pediatrics.

The McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University School of Medicine, which is responsible for the Online Mendelian Inheritance in Man (OMIM) database of information about human genes, genetic disorders, and their relationships, named the Garg-Mishra Progeroid Syndrome (GMPGS) in honor of Drs. Garg and Mishra. GMPGS is characterized by severe dwarfism, mandibular hypoplasia (short jaw bone), microphthalmia (small eyeballs), hyperopia (farsightedness), partial lipodystrophy (lack of body fat in the limbs) and a shortened lifespan.

The discovery of the gene variant TOMM7 stemmed from the 2022 case of a Malaysian patient with highly unusual physical characteristics. At the time, the man was 21 years old, 3.8 feet tall, and 46 pounds, with a head circumference of 21 inches. He also had lipodystrophy and extremely poor vision. The TOMM7 gene encodes a subunit of the mitochondrial outer membrane import complex, called translocase of outer mitochondrial membrane 7.

Dr. Garg, a member of the Division of Endocrinology and the Center for Human Nutrition, Dr. Mishra, a member of the CRI Genetic and Metabolic Disease Program, and colleagues discovered this individual had a new form of progeria, a rare premature-aging syndrome, and traced its cause to the novel gene mutation. The research team reported the case in the Journal of Clinical Investigation and outlined their investigation determining that TOMM7 was responsible for the disorder.

Learn more about this research at Dr. Garg’s Lab website, and Dr. Mishra’s Lab website, or discover more at Garg-Mishra Progeroid Syndrome.