CDFD is collaborating with pediatrics departments of medical colleges, DBT-UMMID centers, and 15 centers across India to analyze samples from children with rare genetic disorders and their parents. Scientists at the CDFD will perform high-throughput Whole Exome Sequencing (WES)/ Whole Genome Sequencing (WGS), analysis of sequence data, functional validation of the new genes/variants, a database of phenotype-genotype to determine which gene/mutation(s) cause rare disease condition. Data obtained from this project would be uploaded in the database for immediate reference to other researchers, patients and their family.
Mission program on Pediatric Rare Genetic Disorders (PRaGeD) is a PAN-India initiative funded by the Department of Biotechnology (DBT), Ministry of Science and technology, Government of India. PRaGeD aims to create awareness, achieve genetic diagnosis, discover & characterize new genes/mutations, provide counselling, and to develop new therapies for pediatric rare genetic diseases in India.