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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

ACADEMIC ACTIVITIES

GRAND ROUND

Date: 30.10.2026 –Friday 03:30 PM to 04:30 PM


Topic: 

“When Genes turn against self:Decoding the Immunogenetics of Autoimmunity”


Department:  Department of Immunology & Molecular Medicine.


Presenter:
Dr. Subzar Ahmad Malik, Ph.D,
(Sr. Resident – Dept. of Immunology & Molecular Medicine)


Consultant Incharge: 
1. Dr. Roohi Rasool,
(Professor & Head, Dept. of Immunology & Molecular Medicine )


Moderators:


  1. Dr. Dil Afroze,
    (Prof. & Head, Dept. of Advanced Center for Human Genetics)

  2. Dr. Mushtaq Ahmad,
    (Prof. & Head, Rheumatology)




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