Rajan Roopa, Divya K P, Kandadai Rukmini Mridula, Yadav Ravi, Satagopam Venkata P, Madhusoodanan U K, Agarwal Pankaj, Kumar Niraj, Ferreira Teresa, Kumar Hrishikesh, Sreeram Prasad A V, Shetty Kuldeep, Mehta Sahil, Desai Soaham, Kumar Suresh, Prashanth L K, Bhatt Mohit, Wadia Pettarusp, Ramalingam Sudha, Wali G M, Pandey Sanjay, Bartusch Felix, Hannussek Maximilian, Krüger Jens, Kumar-Sreelatha Ashwin, Grover Sandeep, Lichtner Peter, Sturm Marc, Roeper Jochen, Busskamp Volker, Chandak Giriraj R, Schwamborn Jens, Seth Pankaj, Gasser Thomas, Riess Olaf, Goyal Vinay, Pal Pramod Kumar, Borgohain Rupam, Krüger Rejko, Kishore Asha, Sharma Manu
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Sree Chitra Tirunal Institute for Medical Sciences, Trivandrum, India.
Front Neurol. 2020 Jun 18;11:524. doi: 10.3389/fneur.2020.00524. eCollection 2020.
Over the past two decades, our understanding of Parkinson's disease (PD) has been gleaned from the discoveries made in familial and/or sporadic forms of PD in the Caucasian population. The transferability and the clinical utility of genetic discoveries to other ethnically diverse populations are unknown. The Indian population has been under-represented in PD research. The Genetic Architecture of PD in India (GAP-India) project aims to develop one of the largest clinical/genomic bio-bank for PD in India. Specifically, GAP-India project aims to: (1) develop a pan-Indian deeply phenotyped clinical repository of Indian PD patients; (2) perform whole-genome sequencing in 500 PD samples to catalog Indian genetic variability and to develop an Indian PD map for the scientific community; (3) perform a genome-wide association study to identify novel loci for PD and (4) develop a user-friendly web-portal to disseminate results for the scientific community. Our "hub-spoke" model follows an integrative approach to develop a pan-Indian outreach to develop a comprehensive cohort for PD research in India. The alignment of standard operating procedures for recruiting patients and collecting biospecimens with international standards ensures harmonization of data/bio-specimen collection at the beginning and also ensures stringent quality control parameters for sample processing. Data sharing and protection policies follow the guidelines established by local and national authorities.We are currently in the recruitment phase targeting recruitment of 10,200 PD patients and 10,200 healthy volunteers by the end of 2020. GAP-India project after its completion will fill a critical gap that exists in PD research and will contribute a comprehensive genetic catalog of the Indian PD population to identify novel targets for PD.
在过去二十年中，我们对帕金森病（PD）的认识源于对白种人人群中家族性和/或散发性PD的研究发现。基因研究成果在其他种族多样化人群中的可转移性和临床实用性尚不清楚。印度人群在PD研究中的代表性不足。印度帕金森病基因架构（GAP-印度）项目旨在建立印度最大的PD临床/基因组生物样本库之一。具体而言，GAP-印度项目旨在：（1）建立一个对印度PD患者进行深度表型分析的全印度临床资料库；（2）对500份PD样本进行全基因组测序，以梳理印度的基因变异性，并为科学界绘制印度PD图谱；（3）开展全基因组关联研究，以确定PD的新基因座；（4）开发一个用户友好的网络门户，向科学界传播研究结果。我们的“中心-辐条”模式采用综合方法，在全印度范围内开展工作，以建立一个全面的队列用于印度的PD研究。将招募患者和收集生物样本的标准操作程序与国际标准保持一致，确保了数据/生物样本收集工作从一开始就能协调统一，同时也确保了样本处理过程中有严格的质量控制参数。数据共享和保护政策遵循地方和国家当局制定的指导方针。我们目前正处于招募阶段，目标是到2020年底招募10200名PD患者和10200名健康志愿者。GAP-印度项目完成后，将填补PD研究中存在的一个关键空白，并为印度PD人群提供一份全面的基因目录，以确定PD的新靶点。
