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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 Ashraf
Ganie for the establishment and enhancement of advanced biomedical research infrastructure at MRU SKIMS.

Last Updated on Saturday, 18 July 2026 15:36
 

DIRECTOR SKIMS

dir
Prof. M. Ashraf Ganie
DM Endocrinology
Director SKIMS

Dean Medical Faculty

Dean
Dean Medical Faculty

Medical Superintendent

Prof. Farooq A. Jan
MD (Hospital Administration)
Medical Superintendent

ACADEMIC ACTIVITIES

GRAND ROUND

Date: 12.09.2026 – Saturday 09:00 AM to 10:00 AM


Topic: 

Two years’ study on emergency metrics: SUCCESSES AND FAILURES.


Department: Department of Emergency Medicine.


Presenter:
Dr. Shariq Mehraj Naqati,(Assistant Professor, Department of Emergency Medicine)


Consultant Incharge: 
1. Dr. Abrar Ahad Wani,
(Professor & I/C Head, Dept. of Emergency Medicine)


Moderators:


  • 1. Prof. Farooq Ahmad Jan,
    (Medical Superintendent, SKIMS)

  • 2. Dr. Mohammad Akbar Shah,(Prof. & Head, Critical Care Medicine)




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