BENGALURU: A study conducted by MedGenome, a genomics company in South Asia, along with Parkinson’s Research Alliance of India (PRAI), has found that the rare genetic variations along with common variants derived through polygenic risk score (PRS) can detect Young Onset of Parkinson’s Disease (YOPD).
This is the first of a kind study conducted in the country aimed to initiate a population-based genetic analysis of YOPD. Over 1,000 patients from across the country were part of the study.
The report was published in the July 2022 edition of the Advanced Biology journal with 100 whole genomes of Parkinson’s Disease patients. The new study validates the knowledge along with the new findings on the genetics of Parkinson’s disease, published in the Movement Disorders.
The research paper investigates genetic variations associated with YOPD in the Indian population. The study validates existing findings from European populations and identifies major genetic mutations in the genes.
Researchers said, in the study, they aggregated the 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 in YOPD in the Indian population enhanced the understanding of the genetic basis of Parkinson’s disease and introduced a novel genetic screening approach.
Prof Rupam Borgohain, secretary, PRAI, said, “Parkinson’s disease is a common neurological disorder causing tremors, slowness of movements, stiffness and walking difficulties in most. It is caused by a complex interaction between external environmental and familial or genetic factors.
Based on the initiative of Dr Prashanth LK, specialist in movement disorders, Parkinson’s disease and movement disorders clinic, Bengaluru, a first of its kind - India wide registry of YOPD (disease starting at age less than 50) was started by PRAI and resulted in insights into clinical and genetic aspects of Indian patients.
Parkinson’s disease with onset less than 20 years, 20-40 years and 40-50 years has different clinical features. The role of genetic factors seems to be higher in these patients compared to older age and this collaborative project has identified unique genetic fingerprints in Indian patients.”
Dr Vedam Ramprasad, CEO, MedGenome said, with increased focus on personalised medicine, using risk screening tools such as Polygenic Risk Score (PRS) will enable to predict an individual’s genetic liability to rare and inherited diseases much in advance before the symptoms start appearing.