Code Red In The Pool

There’s no cure for most of the 70 million Indians suffering genetic diseases

- Ajay Sukumaran

In the front office of a laboratory in Bangalore, colour-coded tubes that have just arrived are being sorted and sent away—a journey into deep, searching questions. Merely looking at the assortment of machines they will pass through won’t give a full sense of the intricate steps involved because these are automated. The samples in the tube contain DNA—those knowledgeable little molecules must be extracted first. Then, the strings of DNA are cut and made into libraries, small enough for the machine to read. Think of it—millions of unknown strands stacked up, copied, sequenced. A mind-boggling scrabble game with the four alphabets—ATGC—that make up the building blocks of DNA. In a few hours, the code that defines a human being somewhere in the country is ready. Then, an intense search begins: the hunt for spelling errors in that vast bibliotheca which has thrown that person into a debilitating descent.

That’s where the story starts, for some. Since actual numbers are hard to come by in India, we have to fall back on estimates of global incidence rates. About 70 million Indians are likely to be suffering from rare genetic diseases, most of them with no cure yet. Usually, the road to a diagnosis is long and brooding, strewn with red herrings along the way till a clinical geneticist actually connects their ailment to a genetic mutation, that spelling error