Research Projects

Objective: To identify of potential fetal hemoglobin associated genetic variants/modifiers of sickle cell disease. To Identify the modifier loci that interact with genetic variation linked to neurological disease such as SCAs and neuro Wilson's disease. To design, synthesis and validate sgRNAs targeting potential genetic modifiers. To engineer suitable cell types with genetic modifier(s) using CRISPR/Cas9 approach and investigate the functional associations of potential modifiers. To test the association between genetic variations in the movement related genes with the susceptibility, age of onset, and clinical features of WO in the Indian context. Generation of two to four Neuro Wilson's diseases patient-specific induced Pluripotent stem cell, from peripheral blood mononuclear cell. Differentiation of the two Neuro WD iPSC to neurons and diseases modeling of neuro WO.