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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India Cares for Rare Diseases
Awareness, diagnosis, novel gene discovery, counselling and novel therapies for Pediatric Rare Genetic Diseases in India
Our Goal
The goal of the project is to reduce the burden of rare diseases in India by the joint efforts of Doctors, Scientists and Citizens.
- It is estimated that 350 million people worldwide suffer from rare disease.
- 1 in 20 Indian patients diagnosed with a rare disease.
- About 80% of rare diseases are genetic.
- 50% of rare disease affect children.
- An average age of 7 years to diagnose rare disease.
- About 30% of children with these debilitating disease will not live to see their 5th birthday.
- 95% of rare disease do not have single FDA-approved drug treatment.
- National Policy for Rare Disease 2021 aiming to lower the high cost of treating rare disease in India was rolled out by Ministry of Health and Family Welfare, Government of India.
Our Mission
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.
Collaborating Institute
16
Patient Registered
667
Sample Sequenced
346