Pune Doctors Discover World’s First Genetic Link to Transient Neonatal Diabetes in Preterm Infant
Pune, 22nd January 2026: Doctors at the Neonatal Intensive Care Unit (NICU) of B.J. Government Medical College and Sassoon General Hospital have identified the world’s first recorded genetic link associated with Transient Neonatal Diabetes Mellitus (TNDM), marking a major breakthrough in global neonatal and genetic research.
The discovery is based on a male infant born extremely premature at 27 weeks of gestation, weighing just 720 grams. The newborn showed persistently high blood sugar levels soon after birth and was diagnosed with neonatal diabetes mellitus. Although the baby initially required insulin therapy, the condition later resolved on its own, confirming it as Transient Neonatal Diabetes Mellitus.
Advanced genetic testing revealed a previously unreported homozygous mutation in the MS4A6A gene. Until now, this gene had never been linked anywhere in the world to neonatal diabetes. Further in-depth genetic analysis scientifically validated the association, making it the first documented case of its kind globally.
Sassoon Hospital Dean Dr Eknath Pawar congratulated the Pediatrics Department Head Dr Aarti Kinikar, Associate Professor Dr Pragati Kamat, and the neonatology team, including Dr Sandeep Kadam (DM Neonatology) and Dr Sohrab Shaikh (DM Neonatology Resident), for the achievement. He said the finding proves that world-class research is possible even in government medical institutions.
The research has been published in an international peer-reviewed journal. Experts say the discovery will help avoid unnecessary lifelong insulin therapy in similar cases and improve early diagnosis and treatment strategies for newborns with rare forms of diabetes.
The breakthrough further strengthens Sassoon Hospital’s NICU and Clinical Genetics Centre of Excellence as leading hubs for neonatal and genetic research in India.
Authors of the research paper include:
Sohrab Shaikh, Sandeep Kadam, Sameer Pawar, Dhyey Pandya, Pragati Kamat, Rahul Davare, Kanchan Sakharakar, Abhinav Kachare, Sangeeta Chivale, Suvidha Sardar, Abhilash Yamawarm, Poonam Mane, Prakash Gambhir, Parag M. Tamhanakar, Salil Vaniyawalla and Aarti A. Kinikar.
