Why We Must Talk More About Rare Diseases

Approximately 300 million people across the world are affected by Rare Diseases. It is even more difficult to find a community around this at the right time because the diagnosis can take more than 5 years. 95% of Rare Diseases currently do not have any standard treatments. The problem with managing such conditions starts with the definition itself, which is not standard across geographies.

What Are Rare Diseases?

The WHO defines rare disease if it affects fewer than 65 in every 100,000 people. Different countries coin their own definitions according to their respective disease prevalence, severity, and availability of treatment options. In the United States, a rare disease is one that affects fewer than 60 per 100,000 individuals. The European Union considers a disease rare if it affects no more than 50 per 100,000 people.

The Organisation of Rare Diseases in India suggests a disease to be defined as rare if it affects 1 in 5,000 people or less. Unfortunately, our country has a particularly high rare disease burden, driven by its population size, and has an estimated 96 million people living with a rare disease, facing limited or non-existent access to treatment. Of the 10,000 rare diseases identified globally, 450 have been reported among the Indian population.

What Should Women Know About Rare Diseases?

Some rare diseases like Turner Syndrome, affect only women. And there are some that are likely to affect 10 times more women than men, such as Fibromuscular Dysplasia. 50% of people diagnosed with rare diseases are children, which has a massive impact on the parent’s quality of life but especially the mother. Women reportedly also get affected by a further delayed diagnosis because of prevalent inequalities in healthcare. Many times common symptoms like pain and fatigue are also overlooked. Most importantly, it is incredibly expensive to manage such conditions, and women often find it difficult to eke out the necessary financial resources for this. Rare Diseases also can have an impact on fertility, and this brings its own social, medical and financial burdens.

Role Of India’s National Policy For Rare Diseases

This policy was launched in 2021. As part of this policy, eight Centres of Excellence have been identified for diagnosis, prevention and care for Rare Diseases. Provision is also made for financial support of Rs 50 lakh if the individuals are seeking treatment from any of the centres of excellence. Rare disease therapies are also supported by the recently released Production Linked Incentive Scheme 2.0 for Pharmaceuticals, with an outlay of INR 15000 Crore. The government has also given an exemption from Basic Customs Duty to drugs or medicines, which are used in the treatment of Rare Diseases when imported by Centres of Excellence.

Rare Diseases And The Future Of Medicine

In India, a population size of 1.3 billion people of 4500 ethnic groups provides a rich and diverse genetic pool, opening up opportunities for a new era of genomic research. However, the future of rare diseases needs global collaboration for better epidemiological data and knowledge-sharing. Most existing databases for rare disease biomedical research are curated in the U.S. and E.U. and hence fail to represent global diversity. Advocacy collectives like IndoUSRare advocate that biopharmaceutical developers include global rare disease incidence and prevalence data in their applications for investigational new drug status. These collaborations are needed to accelerate innovation and extend the capabilities of the research networks.