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.
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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.