Rare Diseases? They Actually Affect Millions of People

By Rachel Whetstone from In the Cloud Copy

Although rare diseases are uncommon by definition, a new study shows that the total number of people affected by rare diseases is higher than researchers previously thought. To be classified as “rare” in the United States, a disease must affect fewer than 200,000 people. However, the total number of people affected by all rare diseases in the United States is about 25–30 million people. The global population of people living with rare diseases exceeds 300 million people. This combined total number might bring more attention to the need for new research and treatments.

Rare Diseases Were Previously Not A Priority

Since a relatively small number of people are affected by a single rare disease, these illnesses have not been studied to the same extent as diseases that have the potential to become an epidemic.

Most countries do not document or track the spread of rare diseases, making it difficult to determine exactly how many people are living with them. There have been few studies about the prevalence of rare diseases around the world, and those studies do not typically contrast the incidences of diseases against the population numbers. This has made it difficult to determine just how common a rare disease is within particular populations.

New Answers Coming to Light

A database of rare diseases in France may bring much needed improvement to research. The National Institute for Health and Medical Research (INSERM) created its database named Orphanet in 1997. Rare diseases are sometimes called “orphans” because of the lack of information and treatment options available.

A new 2019 analysis of the Orphanet database has been published in the European Journal of Human Genetics. Researchers analyzed 3,585 rare diseases to learn how many people are affected by the diseases globally at any given time.

The results of the analysis show that 3.5­–5.9% of the global population have these conditions at the same time.

Although thousands of diseases were analyzed, 80% of the people who were studied had one of just 149 illnesses. This new information can give researchers a better idea of where to concentrate development efforts for treatments.

71.9% of the diseases on Orphanet had genetic causes, indicating that genetic research and gene therapy could help to find new cures. The researchers also discovered that 69.9% of the diseases began in childhood.

Staggering Total Numbers

The Genetic and Rare Diseases Information Center (GARD) suggests that there may be as many as 7,000 rare diseases. More than 300 million people around the world live with a rare disease, which is about 4% of the global population. These numbers don’t include some rare infections or cancers, so the total number may be even higher.

Now that the total numbers are becoming known, researchers hope that the widespread impact of rare diseases will start to affect public health policies.

Hope for New Treatments

Currently, there are 40 different countries around the world working together to pool data on rare diseases.

The Orphan Drug Act was passed in the United States in 1983. As a result, federal incentives are available to pharmaceutical companies that develop drugs for rare diseases. This funding has improved treatments for Marfan syndrome, polycythemia vera, systemic sclerosis, and others. The Office of Orphan Products Development (OOPD) has overseen the production of more than 400 drugs and treatments since the act was passed.

With increasing knowledge that rare diseases aren’t so rare after all, more new treatments may be on the horizon.


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