CSIR laboratory licenses diagnostic technology for rare genetic diseases



The diagnosis of genetic diseases could now become easier. The Institute of Genomics and Integrative Biology of the Delhi Scientific and Industrial Research Council (CSIR-IGIB) has decided to commercialize a set of 27 genetic tests that it has developed over the years. The institute has reached an agreement with Dr Lal PathLabs, who has an extensive network of diagnostic centers across the country, to authorize genetic testing. These tests should be launched in phases during the year.

Although individually rare, genetic diseases cumulatively affect a large number of individuals. It is estimated that over 70 million Indians have been affected. In the majority of cases, proper diagnosis is not achieved mainly due to lack of access and high cost of appropriate genetic diagnostic services, apart from lack of general awareness about genetic diseases.

In addition to helping provide immediate relief to people with genetic diseases, a better diagnostic infrastructure could also help prevent the transmission of genetic diseases to future generations through counseling, prenatal genetic diagnostics, and other measures.

With its rich expertise in the field of genomics and a vast network of clinical partners across the country, IGIB has also embarked on a unique awareness program. Called GOMED (Genomics and other Omics technologies for Facilitate the medical decision), the program provides a platform for clinicians to tap into CSIR-IGIB’s rich and diverse expertise in disease genomics to solve clinical problems.

As a result of this effort, more than 14,000 genetic tests have been performed, benefiting approximately 4,000 patients through a clinical network encompassing more than 25 major medical centers across the country. These tests cover a variety of diseases / disorders including movement disorders, motor neuron diseases, mitochondrial disorders, developmental and inborn errors of metabolism, and leukodystrophies. The project is funded by CSIR’s Fast-Track Translation (FTT) research program.

Dr Girish Sahni, chief executive of CSIR, said the council is focusing on R&D for affordable healthcare through the development of drugs, formulations and diagnostics. “Authorized genetic testing would provide an indispensable support system for physicians to diagnose identified genetic disorders and thereby help patients,” he said.

(India Science Wire)

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