Research Activities
The Department of Human Genetics has the biphasic vision to nurture and mentor Student-Learning outcomes and to carry out research on genetic diseases and disorders in order to benefit society in terms of diagnostics, counseling, management, prognostics and therapeutics . With the mission to facilitate, develop and foster excellence in Human Genetics Research and Education and promote Human Genetics and understanding of Human Diseases, the faculty has published five books and 570 research papers in highly reputed, peer reviewed journals. Moreover, the department has also produced 60 Ph.D.’ s. The students of the department have been absorbed in premier research Institute in different diagnostic centres, laboratories, hospitals and in teaching and research institutions both in India and abroad. Research activities relate to in-depth genetic characterization of cardiovascular, autoimmune, inflammatory diseases, hypertension, obesity, diabetes, eye disorders, cancer, polycystic ovarian disease, Down and rare syndromes and role of genetic-environmental determinants in lifestyle disorders. Functional studies on miRNAs, profiling of notch ligands and receptors in some diseases and positional cloning and exome sequencing ocular disorder are underway. There is a repository of patient data and samples from various population sub-groups. Research findings have been included Online Mendelian Inheritance in Man, National Centre for Bioinformatics and World Health Organization. Novel SNPs and sequences of genes in Type-2 diabetes, Rheumatoid arthritis, Breast cancer, cardiovascular diseases and Psoriasis have been submitted to NCBI.