Highly focused and integrated research by GNDU for identification of genetic risk markers for the diseases prevalent in North Indian Population

Amritsar,    July 22, 2020: Department of Human Genetics of Guru Nanak Dev University is committed to generating rigorous scientific knowledge and is engaged in advanced research, especially in context of Human diseases. In a Cohort Study on North Indian Population, by Dr. Sanjana Mehrotra, Asst. Professor, Dept.of Human Genetics, An Open Angle Glaucoma has been linked to their Genetic variants revealed Glaucoma or “Kala Motiya” is a major cause of blindness worldwide owing to increase in aging population. Study of 12 genetic variants in 7 candidate’s genes showed a genetic association between IL-6, IL-1, CDKN2B and MMP9 gene variants which increased the likelihood of development of open angle glaucoma. Functional studies were conducted to reveal the role of IL6 in modulating survival of a type of nerve cells in retina who’s slow and gradual death in glaucoma causes vision impairment.

 The study delineate that IL6 provides protection to retinal neuronal cultures against oxygen deprivation in an in Verto model.  Two distinct mechanisms have been demonstrated through which IL6 neutralizes mitochondrial distress and cellular damage during oxygen deprivation (hypoxia) in R28 cells with important therapeutic implications for development of immunity based therapies in glaucoma.

A Study by Dr. Manpreet Kaur, Asst. Professor, Dept. of Human Genetics, acknowledged the impact of altered immune responses and of molecular interactions modulating disease susceptibility, its severity, progression and treatment outcomes. In an area of plant based, LECTINS; including mannose binding lectin, glactins, P-selectin, Dectin, DC-SIGN , Different novel molecular as well as blood based biochemical markers in diseases including Rheumatoid Arthritis (RA), Chronic Obstructive Pulmonary Disease (COPD), and Recurrent Vulvovaginal infections (RVVI), Types2 Diabetes Mellitus (T2DM), Esophageal and Breast Cancerhave been ascertained. Seven novel molecular variants of galectin-3 and the gene sequences of two genes encoding anti-cancer proteins have been contributed in the International data base of NCBI, NIH,USA.

 The prevalence and species specific distribution of recurrent vulvovaginal infections (RVVI) in general as well as in pregnancy, is also reported for the first time by the Research Group.

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