Two Indian American professors of medicine, Abhimanyu Garg and Prashant Mishra, 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.
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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, according to a university press release.
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 TOMM7gene 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.
Originally from India, Garg earned his medical degree and received internal medicine residency training at the All India Institute of Medical Sciences. He completed fellowships in endocrinology and metabolism at the University of Alabama at Birmingham and at UT Southwestern. He joined the faculty of UT Southwestern in 1988.
Garg is the leading expert worldwide on lipodystrophy treatment and research. He was the first researcher to test the hormone leptin as a treatment for lipodystrophy as part of a clinical trial that started at UT Southwestern in 2000. In 2014, the U.S. Food and Drug Administration approved the drug form of leptin for the treatment of generalized lipodystrophy.
Garg’s research has resulted in more than 170 publications in peer-reviewed journals. In 2014, Garg was awarded the Jean D. Wilson Award for excellence in scientific mentorship in endocrinology and metabolism at UT Southwestern.
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Mishra received his undergraduate degree in biochemical sciences from Harvard University. He received his M.D. and Ph.D. degrees from the University of Texas Southwestern Medical Center, where he studied the role of scaffolding in signaling pathways with Dr. Rama Ranganathan.
As a fellow of the Jane Coffin Childs Memorial Fund, he conducted postdoctoral work on regulation of mitochondrial behavior in the laboratory of Dr. David Chan at the California Institute of Technology. In 2015, he joined the faculty of Children’s Medical Center Research Institute at UT Southwestern.
Research in the Mishra laboratory is focused on mapping how the mitochondria are embedded into normal cellular function. This research will help identify new insights into mitochondrial diseases and allow the Mishra lab to develop clinical tools and therapeutic options.