After new rare diseases policy, govt incentives needed for finding cures


Shashank Tyagi, a 27-year-old Delhi-based businessman, was diagnosed with Gaucher’s disease when he was five. “I still remember I used to vomit after every small meal as food wasn’t able to digest and fit into my stomach,” he says, recalling the frequent fatigue and pain.

Gaucher’s is one of 50 rare genetic disorders collectively known as Lysosome Storage Diseases (LSD). Lysosomes are the recycling centres within our cells where enzymes break down unwanted substances. People with LSDs are born deficient in these enzymes, resulting in the collection of unwanted substances in the body, causing extensive damage and, if untreated, death.

For years, Tyagi’s parents took him to hospitals around Delhi, to no avail. Then, in 2004, when Tyagi was 14, the All India Institute for Medical Sciences in Delhi sent his blood sample for testing to Manchester, UK. This test established the Gaucher’s diagnosis, although the delay had allowed the disease to progress and cause a minor curvature of the spine. Tyagi was able to start a treatment protocol called enzyme replacement therapy (ERT), with which his disease is under control and he lives a normal life.

There are more than 70 million Indians who suffer from rare diseases such as Tyagi’s. Rare diseases are those that affect a very small percentage of people. Worldwide, 5,000-7,000 rare diseases are thought to exist, and 250 new diseases are described every year.

The World Health Organization (WHO) considers a disease rare if it affects fewer than 6•5-10 persons per 10,000. Developed countries have defined their own thresholds in the context of their respective population sizes–in the USA, it is 7.5 people in 10,000; in Australia, 1; and in Japan, 4.