More than 60 countries around the world participated in Rare Disease Day last year, and the number is expected to be even greater in 2013. Rare Disease Day is observed each year on the last day February and is intended to focus a spotlight on the challenges of living with rare diseases and the need for more research and more treatments.

This year’s global theme is “Rare Disorders Without Border”.
A planning committee meets each year to agree upon a theme and points to emphasize so that, while each country observes Rare Disease Day in its own way, the messages being articulated around the world are the same.

Rare Disease Day was started in Europe by EURORDIS, the European Organisation for Rare Diseases, in 2008. The following year, EURORDIS asked NORD, the National Organization for Rare Disorders, to sponsor it in the U.S. Since then, it has spread to Asia, Australia, South America and other parts of the world.

NORD hosts a national website at WWWW.RareDiseaseDay.US where organizations are welcome to sign up as Rare Disease Day Partners and individuals may sign up as Rare Disease Dat Ambassadors to receive tools, resources and updates about what others are doing. EURORDIS hosts a similar global website at WWW.RareDiseaseDay.Org.

This year, one initiative in thE U.S. is to encourage Partners and Ambassadors to organize educational events at their state capital buildings to educate legislators and others about important issues such as newborn screening and reimbursement for medical foods that are decoded at the state level. Other initiatives include a “Handprints Across America” photo gallery and a Rare Disease Researcher Hall of Fame.

On Rare Disease Day, Genetic Alliance will launch a greatly expanded online directory of more than 13,000 diseases and associated resources. Moving to its own dedicated URL, Disease InfoSearch (, will be the platform for the new Registries for All Diseases(Reg4ALL), which recently won the Sanofi Collaborate Activate innovation Challenge. Reg4ALL will offer a cross disease crowd-sourced platform for all conditions.

While some organizations host events such as concerts, rallies, and awareness day, there are also many activities that can be done by anyone, anywhere. The intent is to create a broad spectrum of alternatives so that everyone can participate in some way.

Rare Disease Day is also intended to be a teaching opportunity, and the organizers work with teachers to take it into the classroom. Last year, a genetic counseling graduate student worked with NORD to create a curriculum supplement for high school students that was later presented in a poster at the National Society of Genetic Counselors annual meeting.More than 200 teachers downloaded the supplement. To learn more about Rare Disease Day and how to get involved, go to WWW.RareDiseaseDay.US.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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