The Centre for DNA Fingerprinting and Diagnostics (CDFD) under the Department of Biotechnology (DBT) on Tuesday announced the launch of the first ever ‘Mission on Paediatric Rare Genetic Disorders (PraGeD)‘, a countrywide screening programme in association with 20 other institutions to decode the unknown genetic mutations causing such diseases.
The centre will be collaborating with paediatrics departments of medical colleges besides, DBT’s own diagnostic centres set up under the Unique Methods of Management of Inherited Disorders (UMMID) programme and others, said DBT secretary Rajesh Gokahle, who unveiled the website for the mission to officially launch the programme.
Dr. Gokhale said the mission is a “complex and challenging” as it seeks to identify the rare genetic disease due to gene mutation at an early stage of pregnancy and try to unravel the unidentified disorders. The mission intends to create awareness, achieve genetic diagnosis, discover and characterise novel genes, provide counselling and also develop novel therapies for the paediatric rare genetic diseases in the country caused mainly due to the endogamous marriages of within the community, explained CDFD Director K. Thangaraj.
Dr. Thangaraj said an estimated seven crore people in the country are suffering from about 7,000 identified rare genetic disorders and the number could be more, because the rural areas have not been covered properly. “They are common in South Asia and underestimated. About 95% of the rare genetic diseases do not have a single approved drug for treatment with about 30% children suffering and many may not live till the age of five,” he said.
About 5,600 families have already been identified for screening for this programme over a period of five years and once genetic mutations are detected in children, the parents will receive counselling while scientists will conduct studies in animal and cell models to understand how these have occurred, said principal investigator and diagnostics head Ashwin B. Dalal
The DBT Secretary also inaugurated the ‘advanced super computing facility’ at the CDFD for data storage for the mission. The data will be shared with the Indian Biotechnology Data Centre (IBDC) and will be made accessible for all researchers for better understanding of the mutations in the Indian populations.
