Rare Diseases

Rare Disease Day

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Visit the Rare Disease Day Website

FAQs About Rare Diseases from the National Institute of Health

In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US. This definition was created by Congress in the Orphan Drug Act of 1983. Rare diseases became known as orphan diseases because drug companies were not interested in adopting them to develop treatments. The Orphan Drug Act created financial incentives to encourage companies to develop new drugs for rare diseases. The rare disease definition was needed to establish which conditions would qualify for the new incentive programs. Other countries have their own official definitions of a rare disease. In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people.

Visit the NIH Website

Global Genes - Allies in Rare Disease

Global Genes connects, empowers and inspires the rare disease community.

Visit the Global Genes Website

The Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.

Visit the GARD Website

Understanding Rare Chromosome and Gene Disorders

Unique is a registered charity. Their mission is to inform, support and alleviate the isolation of anyone affected by rare chromosome disorder of an autosomal dominant single gene disorder and raise public awareness. You can register your or your child's rare diagnosis and can be put into contact with other families living with the same or similar reality.

Visit the Unique Website