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Rare Disease – Infrequent, but not Insignificant

by Dr. Arunima Sen

Posted on 2/28/2018 10:00 AM

The word “rare” usually denotes something precious, something that is unique, and something that is generally sought after. In medicine, however, “rare disease” doesn’t come with such a positive connotation. The World Health Organization defines rare disease as a disease with a frequency of less than 6.5 – 10 per 10,000 people. In the United States, diseases affecting fewer than 200,000 Americans at any given time are considered rare. Even though individually rare diseases may be low in prevalence, when put together, they form a huge burden. There are about 30 million Americans living with rare diseases, 30 million in Europe and 70 million in India reporting a rare disease. “Rare” here, in essence, translates to lack of proper diagnosis, availability of treatment options, social stigma in some cases and apathy.

There are about 5,000 to 8,000 rare diseases; 80% of which are genetic in origin. Most of them have an onset at birth or during infancy. Some examples include spinal muscular atrophy, lysosomal storage disorders, Tourette syndrome, Huntington’s disease, familial adenomatous polyposis and cystic fibrosis.

Rare diseases are often not only life threatening but also severely impact the quality of life of the patients due to their chronic, progressive and degenerative nature. Often, the presenting symptoms cannot be mapped to a known disease or disorder and patients and their families live in uncertainty and anxiety. Due to unique genetic alterations, variable level of genetic expression and penetrance, there is often individual variability in the symptoms of the same disease. This symptomatic diversity also adds to a chance of misdiagnosis.

Most rare diseases do not have specific therapy and are managed only by symptomatic treatment. The specific drugs used to treat rare diseases, called “orphan drugs” are available for only about 400 rare diseases. Pharmaceutical companies are usually reluctant to develop orphan drugs due to the financial non-viability resulting from the small target population for the drug. The Orphan Drug Act (1983) was an attempt to surpass this debacle and facilitate the development and commercialization of orphan drugs. By virtue of this act, the Pharmaceutical companies pursuing orphan drug development in the USA enjoy tax benefits and enhanced market exclusivity as some of the incentives. Pharma companies and the service providers are gearing up today more than ever for orphan drug submissions to bring targeted therapies in to the market.

Another major initiative to raise awareness about rare disease is the annual observance of ‘World Rare Disease Day’, which is the last day of February every year. Initially, when the first event was organized in 2008, about 18 countries participated. By 2017, 94 countries were part of this initiative. It aims to increase public awareness about scientific and therapeutic progress in the field of rare diseases, aims for public funding for research and initiate training within the health sector. One more such international initiative towards collaborative research is ‘The International Rare Diseases Research Consortium’. Launched in 2011, the goal of the consortium is to develop newer targeted therapies like stem cell therapies, gene therapy and therapeutic gene modifications for rare diseases.

Today, it is safe to say that despite the odds, there is recognition and improved efforts to bring specific treatments for rare diseases to the market. There is a continued effort to help patients and care giver communities reach out for support and show solidarity. Infrequent needs do not remain insignificant for much longer; we can all work at it one disease at a time.


Rare Disease Day. What is a Rare Disease.

NORD National Organization for Rare Disorders. Rare Disease Information.

Organization for Rare Diseases in India. Rare Disease Facts.

EURORDIS Rare Diseases Europe. Living with a Rare Disease.

World Health Organization. Rare diseases: Priority diseases and Reasons for Inclusion.

Rare Disease Definition, Organization for Rare Disease in In­­­dia.

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