Hyderabad-based CDFD launches study to develop therapies for rare genetic diseases in children

Hyderabad: Hyderabad-based Centre for DNA Fingerprinting and Diagnostics (CDFD) on Tuesday launched a prestigious multi-centric country-wide study to decode the genetic mutations that cause Paediatric Rare Genetic Disorders (PRaGeD) among children. The initiative will develop novel therapies, achieve genetic diagnosis, discover and characterise novel genes that cause the rare diseases, provide counselling and also create […]

Hyderabad: Hyderabad-based Centre for DNA Fingerprinting and Diagnostics (CDFD) on Tuesday launched a prestigious multi-centric country-wide study to decode the genetic mutations that cause Paediatric Rare Genetic Disorders (PRaGeD) among children.

The initiative will develop novel therapies, achieve genetic diagnosis, discover and characterise novel genes that cause the rare diseases, provide counselling and also create awareness among people.

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The study, in which nearly 15 research and healthcare institutions from across the country are participating, will investigate 5,600 families over a period of five years to identify the genetic cause of undiagnosed paediatric rare genetic diseases.

Once the genetic mutation has been detected in these children, CDFD researchers will conduct studies in animal and cell models to understand how the genetic mutations are causing the rare disease.

“The PRaGeD is an important study for the entire country. This will not only enable us to identify the genetic mutations behind the rare diseases but also help in creating a database of rare genetic disorders, which will be available for researchers and clinicians. The aim is to enable expectant parents take a right call during early stages of pregnancy and if possible, even just after conceiving,” said Secretary, DBT, Dr Rajesh Gokhale, who launched PRaGeD.

CDFD Director, Dr K Thangaraj, who is leading PRaGeD said the disease burden of rare genetic disorders in the country is close to 7 crore and nearly 30 per cent of children suffering from such diseases do not reach the age of five years. About 95 per cent of the rare diseases also do not have an approved drug for treatment.

“Rare genetic disorders are progressive, disabling and life-threatening in nature. India is a country of extraordinary diversity but there is a general prevalence of endogamy, which is a major cause for such rare genetic disorders. This causes a high prevalence of disease-causing mutations within the family and community,” Dr Thangaraj said.

Dr Gokhale also inaugurated an advanced supercomputing facility that will enable data storage for rare genetic diseases at the CDFD.