A groundbreaking study conducted by MedGenome, a leading genomics company in South Asia, in collaboration with the Parkinson’s Research Alliance of India (PRAI), has unveiled significant insights into the genetic basis of Young Onset Parkinson’s Disease (YOPD). The research, detailed in the July 2022 edition of the Advanced Biology journal and Movement Disorders journal, marks a pioneering effort in India, aiming to conduct a population-based genetic analysis of YOPD.
The pilot study, which involved 100 whole-genome sequences of Parkinson’s Disease patients, validated existing knowledge while introducing novel findings. The Genetics of PAN-India Young Onset Parkinson Disease (GOPI-YOPD) project, a multicenter initiative across 10 specialized Movement Disorder Centers/Neurology clinics in India, recruited 1000 patients. This comprehensive effort aimed to explore genetic variations associated with YOPD in the Indian population.
The study confirmed the presence of major genetic mutations in genes like PRKN (13%), GBA, PINK1, and LRRK2. Notably, a rare South Asia-specific mutation in the GBA gene, including p.Ser164Arg, was identified, distinguishing it from other populations. The research aggregated common genetic variations into a Polygenic Risk Score (PD-PRS), paving the way for a genetic screening test to assess Parkinson’s disease risk.
MedGenome Labs conducted the genomic analysis using the SARGAM array, specifically designed for the South Asian population, incorporating 2.5 million unique variants not available in public genetic databases. The study’s outcome allows for the initiation of the first-ever genetic screening in India for Parkinson’s Disease in high-risk individuals and affected families.
Prof Rupam Borgohain of PRAI emphasized the complex interplay of environmental and genetic factors in Parkinson’s disease. The collaboration between PRAI and MedGenome identified unique genetic fingerprints in Indian patients, contributing valuable insights into clinical and genetic aspects.
Dr. Vedam Ramprasad, CEO of MedGenome, highlighted the company’s commitment to providing clinicians and patients with innovative genomic tools. The introduction of Polygenic Risk Score (PRS) as a risk screening tool enables the prediction of an individual’s genetic susceptibility to rare and inherited diseases well in advance of symptoms. As the second most common neurodegenerative disorder globally, with a doubled burden over the past two decades, Parkinson’s disease affects a significant portion of the aging population. In India, where approximately 10% of the global burden resides, translating to nearly 0.58 million patients, this study opens avenues for proactive genetic evaluations, early interventions, and improved treatment strategies, ushering in a new era in Parkinson’s disease research and care.