The Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad has initiated an inter-disciplinary approach to decode the genetic mutations that causes Pediatric Rare Genetic Disorders (PRaGeD) 

The PRaGeD is a PAN-India initiative funded by the Department of Biotechnology (DBT), Ministry of Science and technology, Government of India. 

Speaking after formally launching the program here on Tuesday, Rajesh Gokhale, Secretary, DBT said the rare genetic diseases are a global public health concern with 350 million people affected worldwide and about 70 million Indians. 

The Human Genetics and Genomics task force at DBT extensively supports genomics-based strategies for prediction, diagnosis, treatment and prevention of diseases, he said. 

The CDFD was collaborating with pediatrics departments of medical colleges, DBT-UMMID centres, and 15 centres across India to analyse samples from children with rare genetic disorders and their parents. 

According to K. Thangaraj, Director, CDFD, the vision of PRaGeD was to create awareness, achieve genetic diagnosis, discover and characterise novel genes, provide counselling, and to develop novel therapies for pediatric rare genetic diseases in India.

Research analysis

Rare genetic diseases are clinical conditions that are progressive, consistently disabling, life-threatening and heterogeneous in nature, 

India/South Asia was a region of extraordinary diversity, with over 5,000 anthropologically well-defined groups, many of which follow strict endogamy with significant barriers to gene flow, owing to cultural practices that restrict marriage between groups leading to a high prevalence of disease-causing mutations within the community/family, he said adding that that 95 per cent of rare diseases do not have a single FDA approved drug for treatment. 

CDFD is developing a state of the art facility to study the Pediatric Rare Genetic Diseases. Scientists at the CDFD will perform high-throughput Whole Exome Sequencing (WES)/ Whole Genome Sequencing (WGS), analysis of sequence data, functional validation of the novel genes/variants, a database of phenotype-genotype to determine which gene/mutation(s) cause rare disease condition, according to a release.