Research Projects

Parkinson's disease (PD) is the second most devastating neurodegenerative disease after Alzheimer's disease. It affects both motor and non-motor symptoms in humans. The incidences of PD are increasing and an average of ~13.4 per 100,000 individuals are affected worldwide. PD cases with early onset at or before 21 years are known as juvenile PD. The main cause of juvenile PD (JPD) includes a combination of genetic and environmental factors, mostly JPD is linked to genetic predisposition (inherited either in autosomal dominant, recessive, or X-linked mode), heterogeneity, and other phenomena. Recently, whole genome sequencing has helped to discover both coding and noncoding regions of the genomic alteration that can be mapped, and novel disease causal gene(s)/variant(s) can be identified. Furthermore, human-induced pluripotent stem cell-based studies may provide additional and novel leads for understanding disease biology/pathways and finding novel putative therapeutics. This study aims to identify and characterize novel disease causal gene(s)/variant(s) in families with JPD in the Indian population.