Sher-i-Kashmir Institute of Medical Sciences - [SKIMS]

MRU SKIMS Identified Novel mutation in the KCNJ11 gene that predisposes to congenital hyperinsulinemia A rare disease

The researchers in MRU, and the Department of Endocrinology, SKIMS in collaboration with MDRF, Chennai, identified a novel homozygous missense mutation in the exon 1 of the KCNJ11 gene, (Chr11.17409532 A>T (GRch37) c.107T>A, p.V36E.) predisposing him to congenital hyperinsulinemia- a rare genetic disorder. The findings from this study were documented and reported in Gene.

2026: Awarded the Centre of Research Excellence (CoRE) Grant by the Department of Health Research (DHR), Ministry of Health & Family Welfare,Government of India, to strengthen multidisciplinary and translational research at SKIMS.

2024: Awarded the DBT SHAJA Infrastructure Grant by the Department of Biotechnology (DBT), Government of India, Under the leadership of Prof M AshrafGanie for the establishment and enhancement of advanced biomedical research infrastructure at MRU SKIMS.

Presenter: Dr. Rabbanie Tariq (Adjunct Faculty – Clinical Research, SKIMS)

Consultant Incharge: 1. Dr. Syed Besina Yasin, (Prof. & Head, Dept. of Pathology) 2. Dr. Muzafar M. Wani, (Prof. & Head, Dept. of Nephrology)

Moderators: 1. Dr. Zulfiqar Ali, (Additional Professor, Dept. of Anaesthesiology) 2. Dr. Mir Mohsin, (Additional Professor, Dept. of Plastic Surgery).

Sher - i - Kashmir Institute of Medical SciencesSoura, Srinagar.Jammu & Kashmir - 190011 - IndiaExchange: +91 - 194 - 2401013