CDFD opens lab for paediatric rare genetic disorders in Hyderabad

First-of-its-kind lab will be multi-faceted as the services provided include genome sequencing, identifying of causal genetic variations
Vice President M Venkaiah Naidu at the Centre for DNA Fingerprinting andDiagnostics in Uppal, Hyderabad. (Photo | Express)
Vice President M Venkaiah Naidu at the Centre for DNA Fingerprinting andDiagnostics in Uppal, Hyderabad. (Photo | Express)

HYDERABAD: The Hyderabad-based Centre for DNA Fingerprinting and Diagnostics (CDFD) has established a first-of-its-kind Paediatric Rare Genetic Disorders Laboratory.

The lab will be multi-faceted as the services provided will include genome sequencing, identifying of causal genetic variations, generation of animal models, telemedicine and creation of a database on the disease-associated genetic variants in the Indian population.

Speaking to The New Indian Express, CDFD Director Dr K Thangaraj said that the lab will tie up with medical colleges having paediatric department, from where blood samples of children suffering from rare genetic disorders will be collected.

Scientists at the CDFD will conduct genomic sequencing to understand which mutations in the genes cause disorders. The CDFD has already tied up with 20 medical colleges across the country, including Gandhi Medical College and NIMS in Hyderabad. The lab will also provide counselling to parents regarding the mutation.

Also, once the genetic mutation is identified among such children, the scientists at CDFD will also conduct research to find out if the mutation is the only cause behind the rare genetic disorder. This will be done by testing the particular genetic mutations in animal models.

The CDFD will also make a database of such diseases for further research, which will even help in development of therapeutics. The lab will go a long way, says Dr Thangaraj pointing out that the ‘rare’ genetic disorders are not exactly rare in India.

It may be mentioned here that a study conducted earlier by a team of 17 scientists from various institutions led by Dr Thangaraj had found that the chances of diseases occurring in children due to genetic defects from parents, also known as recessive diseases, are very high in Indian communities because of endogamy, practice of marrying within the same community or caste.

Adopt healthy lifestyle: Venkaiah to citizens

The Paediatric Rare Genetic Disorders Laboratory at the CDFD was inaugurated by Vice President M Venkaiah Naidu on Saturday. Speaking on the occasion, he pointed out that CDFD has undertaken the testing of more than 40,000 samples in the past 10 months and praised the research centre for providing DNA fingerprinting service to courts, NIA and CBI for ensuring correct judgement in criminal cases, and in providing relief to the families of disaster victims.

Venkaiah, in his speech, called upon the people, particularly the youth, to adopt a healthy lifestyle and avoid sedentary living and junk food, in view of the growing incidence of non-communicable diseases in the country. He cited WHO data that has attributed 61 per cent of all deaths in the country to noncommunicable diseases like heart disorders, cancer and diabetes.

The Vice President said that there is a need to revisit the traditional food habits, promote the consumption of protein- rich food for better health, and cautioned against consumption of instant food, by quipping “instant food means constant disease”.

Referring to the burden of genetic diseases, he asked scientists to develop simpler and cost-effective methods for diagnosis of various genetic diseases to help in better patient management. He also asked them to take up research in agriculture, to make the profession remunerative.

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