Mission Program on Pediatric Rare Genetic Disorders
BT/ PR45460/ MED/ 12/ 952/ 2022
DEPARTMENT OF BIOTECHNOLOGY
March 30, 2022
March 29, 2027
5 years
Pediatric rare genetic disorders
Mission Program on Pediatric Rare Genetic Disorders
Next Generation sequencing data, proteomics data, clinical data
Genomic analysis for diagnosis of rare genetic disorders,Database development and analysis,Functional validation of novel variants/novel genes, Development of affordable diagnostics/screening strategi
Rare disorders, genetic diagnosis, genomics, proteomics, genetic counseling and awarenesses
Given the high burden of rare genetic disorders in India, owing to the twin practices of endogamy and consanguinity, the proposed mission program is bound to uncover novel gene/variants associated with inherited rare disorders. Functional characterization of novel genes/variants using different metazoan model systems is likely to establish causality between the novel mutation and the phenotype.
881556516
Ashwin Dalal/DBT/Centre for DNA Fingerprinting and Diagnostics (CDFD)