TY - JOUR
T1 - Genetic architecture of parkinson’s disease in the indian population
T2 - Harnessing genetic diversity to address critical gaps in parkinson’s disease research
AU - Rajan, Roopa
AU - Divya, K. P.
AU - Kandadai, Rukmini Mridula
AU - Yadav, Ravi
AU - Satagopam, Venkata P.
AU - Madhusoodanan, U. K.
AU - Agarwal, Pankaj
AU - Kumar, Niraj
AU - Ferreira, Teresa
AU - Kumar, Hrishikesh
AU - Prasad, A. V.Sreeram
AU - Shetty, Kuldeep
AU - Mehta, Sahil
AU - Desai, Soaham
AU - Kumar, Suresh
AU - Prashanth, L. K.
AU - Bhatt, Mohit
AU - Wadia, Pettarusp
AU - Ramalingam, Sudha
AU - Wali, G. M.
AU - Pandey, Sanjay
AU - Bartusch, Felix
AU - Hannussek, Maximilian
AU - Krüger, Jens
AU - Kumar-Sreelatha, Ashwin
AU - Grover, Sandeep
AU - Lichtner, Peter
AU - Sturm, Marc
AU - Roeper, Jochen
AU - Busskamp, Volker
AU - Chandak, Giriraj R.
AU - Schwamborn, Jens
AU - Seth, Pankaj
AU - Gasser, Thomas
AU - Riess, Olaf
AU - Goyal, Vinay
AU - Pal, Pramod Kumar
AU - Borgohain, Rupam
AU - Krüger, Rejko
AU - Kishore, Asha
AU - Sharma, Manu
N1 - Publisher Copyright:
© 2020 Rajan, Divya, Kandadai, Yadav, Satagopam, Madhusoodanan, Agarwal, Kumar, Ferreira, Kumar, Sreeram Prasad, Shetty, Mehta, Desai, Kumar, Prashanth, Bhatt, Wadia, Ramalingam, Wali, Pandey, Bartusch, Hannussek, Krüger, Kumar-Sreelatha, Grover, Lichtner, Sturm, Roeper, Busskamp, Chandak, Schwamborn, Seth, Gasser, Riess, Goyal, Pal, Borgohain, Krüger, Kishore, Sharma and the Lux-GIANT Consortium.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Biobank
KW - Common genetic variation
KW - Genetic diversity
KW - Genome-wide association study
KW - Parkinson’s disease
UR - https://www.scopus.com/pages/publications/85087713326
U2 - 10.3389/fneur.2020.00524
DO - 10.3389/fneur.2020.00524
M3 - Article
AN - SCOPUS:85087713326
SN - 1664-2295
VL - 11
SP - 1
EP - 11
JO - Frontiers in Neurology
JF - Frontiers in Neurology
M1 - 524
ER -