Q: What is the definition of a "Rare Disease"?

A:

In the United States a rare disease is generally considered to be a disease that affects fewer than 200,000 people at any given time.

A rare disease is also known as an "Orphan Disease".

Q: How many rare diseases are there in the United States?

A:

There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans.

Q: What causes rare diseases?

A:

This is one of the key areas of medical necessity, because the exact cause, or etiology, for many rare diseases remains unknown. Many rare diseases are the result of genetic mutations passed from one generation to the next, running in families and thus hereditary in nature. Other factors may cause de novo mutations such as environmental, exposure to chemicals, dietary, or smoking.

Q: What types of research is being done in rare diseases?

A:

The US government developed the "Orphan Drug Act of 1983" to provide incentive to drug companies to develop treatments for rare diseases and fortunately, over 340 treatments for rare diseases have been approved by the U.S. Food and Drug Administration (FDA).

However, these incentives do not apply to diagnostic testing and thus more funding is needed in this area since very often the biggest challenge is the identification of a rare disease in the diagnostic workup of patient's symptoms.

Q: What are examples of rare diseases?

A:

Hereditary Angioedema (HAE)

Primary Immunodeficiency (PI)

Cystic Fibrosis (CF)

Duchenne Muscular Dystrophy

Huntington's Disease

Amyotrophic Lateral Sclerosis (ALS)

Spinal Muscular Atrophy (SMA)

Various Cancers

Pompe Disease

Wilson Disease

Alkaptonuria (AKU)

Gaucher Disease

Fabry Disease

Mesothelioma