Rare Diseases - Genomics

Expires on 04/13/2045

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Rare Diseases, Genomics and Public Health: An Expanding Intersection - Rare Disease Day is celebrated on the last day of February each year. On that day, millions of patients and their families around the world share their stories in order to raise awareness about rare diseases and their impact.
There are thousands of diseases that are individually rare but collectively common. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people, and rare diseases as a whole affect about 25 million people in the United States, and about 400 million worldwide. They can have severe health impact on affected patients and their families, including physical and intellectual disabilities and premature death. Examples of rare diseases include Huntington disease, fragile X syndrome, Guillain-Barr syndrome, Crohn disease, and Duchenne muscular dystrophy. In addition, the economic impact of rare diseases is substantial not only for affected patients and their families, but for society as a whole.

A disease is considered rare in the United States if it affects fewer than 200,000 people. There are approximately 7,000 rare diseases known today.

About 80% of rare diseases are genetic, and about one-half of all rare diseases affect children.

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Rare Diseases Insighter - Rare Diseases Insighter mission is to expand public knowledge of rare diseases and to provide source verified information that is patient-centered and data-driven. This information may easily be shared with the community in a variety of social media formats, including FB, TWT, LinkedIn, emails, and more. 

Medical experts and representatives of patient organizations who would like to assist MBiCircle in developing reports on topics not currently covered here, please contact us.


A rare disease is a condition that affects fewer than 200,000 people in the United States or no more than 1 of every 2,000 people in Europe. Examples of rare diseases are life-threatening and physically or mentally disabling conditions such as Huntington disease, spina bifida, fragile X syndrome, Guillain-Barr syndrome, Crohn disease, cystic fibrosis, and Duchenne muscular dystrophy.

Possibly the main reason for the limited applicability of the public health approach to rare diseases is that patients are few and scattered across populations. But another reason is that approaches based on identifying and removing risk factors are generally not well-suited for diseases whose primary risk factors are innate or congenital and therefore irremovable.

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Rare Diseases Insighter

Rare Diseases Awarness
Started on 04/29/2021
Rare Diseases - Genomics

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Rare Diseases Insighter

Rare Diseases Awarness
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