Over 5,000 Patients to be Studied for More Than 5 Yrs to Identify Novel Genes for Rare Paediatric Diseases

The Ministry of Science and Technology and the Department of Biotechnology have recently launched the Mission Programme on Pediatric Rare Genetic Disorders to map rare genetic diseases among children. Our aim is to identify the genes causing these diseases and then develop ways to treat them.” There are around 7,000 rare diseases like Down’s Syndrome, Spinal Muscular Atrophy, Thalassemia etc. Endogamy and consanguinity The tradition of endogamy and consanguineous marriages among various Indian communities is one of the major causes of rare diseases in India, leading to the high prevalence of disease-causing mutations. Furthermore, PRaGeD aims to develop novel and cost-effective diagnostic and screening approaches for rare genetic diseases aligning with the Ministry of Health and Family Welfare’s National Policy for Rare Diseases 2021, which intends to lower India’s high treatment costs for rare diseases. Some facts about rare diseases: • It is estimated that 350 million people worldwide suffer from rare diseases • One in 20 Indian patients is diagnosed with a rare disease • About 80% of rare diseases are genetic • About 50% of rare diseases affect children • About 30% of children with these debilitating disease will not live to see their 5th birthday • About 95% of rare diseases 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 Read all the Latest India News here