Genome sequencing: A solution to India’s problem of rare genetic diseases

Some months ago, a woman — three months pregnant — came to see a paediatrician at Government Medical College in Kozhikode carrying an unusual request.

She wanted to know if there was a way to find out if her unborn child could develop a rare immune disease her firstborn was suffering from. The white blood cells in her six year-old girl’s body behaved abnormally, leading to organ infections and retarded growth. Doctors, so far, had been unable to cure the girl, she said.

It appears the worried mother had come to the right doctor. Dr Geeta Govindaraj took up her case and reached out to the Institute of Genomics and Integrative Biology (IGIB) in Delhi, run by the Council of Scientific and Industrial Research (CSIR).

First, using genome sequencing, the scientists at IGIB found out the exact genetic abnormality in the first child. This information was to be used to find out if the foetus too carried the same abnormality.


Time was short. The woman underwent an antenatal procedure in Kozhikode and her samples were sent to the Centre for Cellular & Molecular Biology (CCMB) in Hyderabad. Tests were done using primers sent by IGIB and the results showed the foetus did not have the genetic abnormality.

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