Indian Genes Could Save the World From Rare Diseases

India Offers a Treasure Trove of Genetic Data for Researchers to Develop Long-Neglected Therapies

- RAHUL MATTHAN

In an episode of my podcast titled "The Incurable Disease," I told of how a husband and wife with no previous medical training or experience built a genetics laboratory in a bungalow in Bangalore so they could find a treatment for Duchenne's Muscular Dystrophy (DMD) to save their son. As much as this is a story of grit and perseverance, it also shows how far genetic technology has come and how affordable its innovations can now be.

Diseases like DMD are rare medical conditions. They affect a relatively small proportion of the general population. Yet, over 400 million people suffer from more than 7,000 known rare diseases today, with the Global South bearing the bulk of this burden.

While there are treatments for many rare diseases, given the small size of the patient population, pharmaceutical companies cannot achieve the economies of scale needed to make them commercially available. In the 1980s, patient advocacy groups began to draw attention to this, pointing out that research and development (R&D) for rare disease drugs was being discouraged because it wasn't profitable. Since they were being consciously abandoned, they started being called 'orphan drugs.'