CDFD launches study to develop treatments for rare genetic diseases in children

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treatments for rare genetic diseases in children

Hyderabad-based Centre for DNA Fingerprinting and Diagnostics (CDFD) on November 1, 2022 launched a nationwide study to decode the genetic mutation that causes Paediatric Rare Genetic Disorder (PRaGeD) in children.

Important facts

  • The PRaGeD mission is a pan-India initiative funded by the Department of Biotechnology (DBT).

  • The initiative will discover genes that cause rare diseases, develop suitable treatments, provide counselling and create awareness among people.

  • About 15 research and health institutions from across the country are participating in the study.

  • Under this initiative, 5,600 families will be screened over a period of five years to identify the genetic causes of undiagnosed paediatric rare genetic diseases.

  • Once the genetic mutation is detected in these children, the researchers will conduct studies in animals and cell models to understand how the genetic mutations are causing the rare disease.

What is a rare genetic disease?

  • A rare disease is any disease that affects a small percentage of the population.

  • Most rare diseases are genetic, therefore these are called rare genetic diseases. 

  • These diseases are present throughout a person’s entire life, even if symptoms do not immediately appear.

  • Common rare diseases found in India are haemophilia, thalassemia, sickle cell anaemia and primary immune deficiency in children, auto-immune diseases, lysosomal storage disorders like Pompe disease, Hirschsprung disease etc.

  • The burden of rare genetic diseases in India is close to 70 million and about 30 percent of children suffering from such diseases are below the age of five years.

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