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Hyderabad: A collaborative study by MedGenome, a prominent genomics company in South Asia, and the Parkinson’s Research Alliance of India (PRAI) has yielded significant findings regarding the detection of Young Onset Parkinson’s Disease (YOPD) through rare genetic variations and common variants derived through polygenic risk scores (PRS). Published in the Advanced Biology journal in July 2022, the pilot study examined 100 whole genomes of Parkinson’s Disease patients, while subsequent research was published in the esteemed journal, Movement Disorders.This groundbreaking research, the first of its kind in India, initiated a population-based genetic analysis of YOPD in the Indian population through the Genetics of PAN-India Young Onset Parkinson Disease (GOPI-YOPD) project. Utilizing a multicenter approach across 10 specialty Movement Disorder Centers/Neurology clinics in India, the study identified major genetic mutations associated with YOPD, including those in genes such as PRKN, GBA, PINK1, and LRRK2. Notably, a rare South Asia specific mutation in the GBA gene, including p.Ser164Arg, was discovered, which is absent in other populations.Furthermore, the study aggregated common genetic variations into a polygenic risk score (PD-PRS), introducing a genetic screening test for assessing the risk of developing Parkinson’s disease. This comprehensive analysis of rare and common genetic variations enhances the understanding of the genetic basis of Parkinson’s disease and introduces a novel genetic screening approach to assess disease risk. These findings pave the way for the first-ever genetic screening in India for Parkinson’s Disease in high-risk individuals and affected families, enabling early intervention, disease risk mitigation, and improved treatment strategies.The genomic analysis for the study was conducted at MedGenome Labs using MedGenome’s SARGAM array (South Asian Research Genotyping Array for Medicine), which features curated content from a proprietary database of 2.5 million variants unique to the South Asian population.Prof Rupam Borgohain, Secretary of PRAI, highlighted the importance of genetic factors in Parkinson’s disease and commended the collaborative effort for identifying unique genetic fingerprints in Indian patients. Dr. Vedam Ramprasad, CEO of MedGenome, emphasized the significance of personalized medicine and risk screening tools such as PRS in predicting genetic liabilities to diseases.Parkinson’s disease, the second most common neurodegenerative disorder globally, has seen a significant increase in its burden over the past two decades. In India, approximately 0.58 million patients are affected by the disease, representing about 10% of the global burden.
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