Genomics to help address rare diseases

By Dinesh C Sharma

New Delhi,Nearly 70 million Indians suffer from rare genetic disease.Now Indian scientists are teaming up clinicians to address such diseases by applying knowledge generated through the study to human genome.

The Institute of Genomics and Integrative Biology (CSIR-IGIB), which has been working on genome of Indians for a long time, has signed an agreement with the All India Institute of Medical Sciences (AIIMS) for collaborative research in the area of rare diseases and application of genomics to help clinical decisions.

As part of the agreement, the two centres will work together in the field of genetic diseases as well as application of knowledge generated through genomics in clinical settings. They would jointly formulate and execute collaborative projects aimed at helping diagnosis of rare genetic diseases as well as in development of precise therapies for of genetic diseases.

The MoU would enable AIIMS access the state -of the art genomics knowledgebase and infrastructure at IGIB to solve pertinent clinical problems," explained Sridhar Sivasubbu, scientist at IGIB and co-founder of ‘Genomics for Understanding Rare Diseases India Alliance Network.The agreement would let faculty members of both institutes to actively work together for accelerating the application of genomics to people suffering from rare diseases. The collaboration is expected to result in fast, accurate and cost effective diagnosis of genetic diseases.

The rare diseases network is the largest clinical collaborative network of its kind and includes over 100 clinicians from over 35 clinical centres across India working on rare diseases."The new agreement would enable equitable and affordable access to genetic diagnosis for patients coming to AIIMS and provide a unique opportunity to understand the landscape of genetic diseases and ways to diagnose and prevent them," added Vinod Scaria, co-founder of the network.

"The new agreement would enable equitable and affordable access to genetic diagnosis for patients coming to AIIMS and provide a unique opportunity to understand the landscape of genetic diseases and ways to diagnose and prevent them."

IGIB is also home to another programme called ‘Genomics and other Omics tools for Enabling Medical Decisions’ initiated in 2016 to work on affordable access to genetic diagnosis. The programme covers genetic tests for over 80 genes and has already catered to over 2000 patients in from over 25 centres from across the country.

A large number of diseases and traits have been shown to be linked with genetic variations in humans. In India it is estimated that almost 64 of every 1000 live births carry a birth defect and one out of every 20 children are known to suffer from one or other form of genetic diseases in urban India. With over 15 million babies born every year, the estimated fraction of Indian population suffering from genetic disorders could be very high. (India Science Wire)

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