ADVERTISEMENTs
.png)
Rare ageing disorder named after Indian-origin doctor duo
Dr. Abhimanyu Garg and Dr. Prashant Mishra are being honored for the discovery of a rare genetic disorder causing rapid ageing and the gene variant responsible for the syndrome.
Dr. Abhimanyu Garg and Dr. Prashant Mishra / Southwestern Times.
Dr. Abhimanyu Garg and Dr. Prashant Mishra have been recognized for discovering a rare genetic disorder causing rapid ageing and the gene variant responsible for the syndrome. Dr. Garg is a Professor of Internal Medicine, and Dr. Mishra is an Associate Professor at 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 has named the disorder Garg-Mishra Progeroid Syndrome (GMPGS) in their honor. GMPGS is marked by severe dwarfism, mandibular hypoplasia (short jaw bone), microphthalmia (tiny eyeballs), hyperopia (farsightedness), partial lipodystrophy (lack of body fat in the limbs), and a shortened lifespan.
The discovery originated from the 2022 case of a Malaysian patient with highly unusual physical characteristics. At age 21, the patient was 3.8 feet tall, weighed 46 pounds, and had a head circumference of 21 inches, along with lipodystrophy and extremely poor vision. Genetic analysis led to the identification of the TOMM7 gene variant, which encodes a subunit of the mitochondrial outer membrane import complex, known as translocase of outer mitochondrial membrane 7.
Dr. Garg, a member of the Division of Endocrinology and the Center for Human Nutrition, and Dr. Mishra, a member of the CRI Genetic and Metabolic Disease Program, identified a new form of progeria and traced its cause to the novel TOMM7 mutation. Their findings were published in the Journal of Clinical Investigation.
ADVERTISEMENT
ADVERTISEMENT
ADVERTISEMENT
E Paper
ADVERTISEMENT
.jpg)
Video
Comments
Start the conversation
Become a member of New India Abroad to start commenting.
Sign Up Now
Already have an account? Login