Contact
- pdmdaster.medcity@asterhospital.com
- (+91) 8714396641
RESEARCH ACTIVITIES
The continuous efforts in harnessing sequencing approaches to catalogue genetic variations from populations that have been hitherto underrepresented in genomic research have started unraveling genetic discoveries that have not been previously captured in European populations. The lack of diversity, particularly in neurodegenerative diseases such as Parkinson’s disease, has been recognized. Within the Lux-GIANT network, we covered main centers from India, Luxembourg and Germany to develop a collaborative research network to understand genetic risk in neurodegenerative diseases. For this purpose, the following research projects were launched by the consortium funded by Michael J Fox Foundation (MJFF) (https://www.michaeljfox.org/) located in New York is focused on building improved knowledge about the lived experience of Parkinson’s disease, finding an objective test for Parkinson’s, engaging patients in research and supporting the development of new treatments and a cure.
PROJECTS:
- Genetic Architecture of Parkinson’s disease (GAP)-New Genome Sequencing (NGS) for discovery of new variants in LRRK2 gene-variants unique to Indian population, funded by Michael J Fox Foundation (MJFF)-2012
- Cataloguing the Genetic Epidemiology of Parkinson’s disease (CAGE-PD) in India-Whole Genome Sequencing (WGS) to discover new genes underlying familial PD in India, funded by Michael J Fox Foundation (MJFF) - 2015
- Fox Genetic Diversity in Parkinson’s disease program-Genome Wide Association Study(GWAS): Genetic Architecture of Parkinson’s disease (GAP)- India-Phase I study, funded by Michael J Fox Foundation (MJFF)- 2019
- Phase II-GAP 2 Study-Replication cohort for refining and validating findings from the Genetic Architecture of Parkinson’s disease (GAP) India phase I study- Global Parkinson's Genetics Program(GP2) study, funded by Michael J Fox Foundation (MJFF)-under process
OBJECTIVES OF GAP STUDIES
- A pan-Indian deeply-phenotyped clinical repository of Indian PD
- India PD map- using WGS in 500 PD samples to catalog Indian genetic variants
- Perform a GWAS to identify novel loci for PD (sample size 20400)
- To establish and develop a comprehensive infrastructure and network pan-India to provide quality healthcare information to PD patients.
- To join global efforts on PD, led by the Global Parkinson's Genetics Program (GP2) (https://gp2.org) and to lead efforts on populations that have been underrepresented in genomic research in PD.
- To create a dedicated infrastructure by establishing a digital/data core by transferring technical know-how to India from Germany and Luxembourg.
ABOUT GAP I STUDY
The Genetic Architecture of PD (GAP)- India study- Phase I was initiated by the Lux-GIANT (Luxembourg- German India Alliance on Neurodegenerative diseases and Therapeutics) consortium in 2020, is ongoing in 18 centers across India. Phase I study aimed to identify the risk genes underlying PD in the Indian PD population through the first Indian Genome Wide Association Study (GWAS) in PD. A dedicated infrastructure by establishing a digital/data core was created to maintain the GAP-India digital database in India. The sample size for the phase I study is 10200 patients and 10200 controls from 18 centers across India. Currently ~92% of control samples and ~72% of the PD samples have been collected and ~40% of the samples have undergone genomic analysis. The consortium is expanded to further integrate additional centers in India. All these steps taken have established the Lux-GIANT consortium at the forefront of PD research worldwide.
GOAL OF GAP II STUDY
- To thoroughly evaluate the clinical characteristics of the new cohort of 5000 individuals, both PD (2500) and age, gender-matched controls (2500) for validating and replicating the findings from the GAP-India study I.
- To perform a collaborative study with Global Parkinson’s Genetics Program (GP2) to assess the role and impact of diverse population-specific variants on the Indian PD population and vice-versa.
PAN-India coverage of population through participating sites in India
