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5 things you need to know about international rare disease organisations

We have all heard and read about them but what do they really do? Check out these five questions and answers about the key rare disease organisations.

Who are the big players?

Three of the biggest organisations in the world of rare diseases are EURORDIS, NORD and Orphanet. All three represent those living with rare diseases across Europe and America. They all have common goals: improving the diagnosis and care of those living with rare diseases and finding treatments and cures.

What is their mission? 

EURORDIS is the voice of rare disease patients in Europe. They represent 30 million patients who are affected by 4000 distinct rare diseases. They advocate within the European Commission and other European institutions for policies that address the needs of patients and their families.

NORD stands for National Organization for Rare Disorders and is an American organisation. NORD is made up of a group of voluntary organisations, who work with people living with rare diseases. They are focused on identifying rare diseases and their treatment and cures through education, advocacy, research and services.

Orphanet is an organisation, based in France, which works in over 40 countries, collecting information on rare diseases from expert centres, medical laboratories, ongoing research projects and patient organisations. Orphanet compiles and shares this information with all audiences within the rare diseases community, through their Orphanet portal.

What have they achieved?

The huge impact that these organisations have had on policies relevant to all aspects of rare diseases is far beyond the scope of this article. However, it is of particular note that both EURORDIS and NORD have been instrumental in making it more attractive for drug companies to develop so called 'orphan drugs' for rare diseases. NORD also sponsored the first ever American Rare Disease Day in 2009 and both organisations are the primary drivers of the international Rare Disease Day.

Orphanet produces an encyclopaedia of rare diseases and an inventory of orphan drugs. These are invaluable tools in educating patients, medical professionals, researchers and rare disease organisations across the world.

Why are they important for people living with EB?

EURORDIS actively supports the implementation of rare disease strategies in all European countries and many DEBRA representatives across Europe have played a role in this ongoing process. EURORDIS also contributes to the promotion of rare diseases as a priority in EU research policy and funding schemes, meaning more potential funding for EB research. 

NORD provides invaluable information on advocacy, research, and patient services to help all patients and families affected by all rare diseases, including EB. Working together in a partnership, NORD and EURORDIS established RareConnect.org, an online space where people living with rare diseases connect to share experiences and access information. The EB online community is a growing community on RareConnect, with members from around the world. 

Orphanet provides detailed information on each and every subtype of EB which is incredibly useful for medical staff encountering EB, perhaps for the first time. 

It is especially worth noting that DEBRA International COO, John Dart, currently acts as the Deputy General Secretary of EURORDIS and Brett Kopelan, Executive Director of DebRA of America, is current treasurer of NORD, meaning the EB voice is always at the table!

What aspects of their work should I look at first? 

EURORDIS: EURORDIS recently worked with the EUCERD (European Union Committee of Experts on Rare Diseases) on their annual report titled 'State of the Art of Rare Diseases in Europe'. The report provides great insights into the rare disease activities in Europe at this moment, including information on EB.

NORD: This year NORD is celebrating its 30th anniversary. Their website has some great features on the work and milestones they have met over the last thirty years.

Orphanet: Have a look at the Orphanet information portal and read the encyclopaedia entries on EB.

Sinead Deasy, DEBRA Ireland

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Image courtesy of Danilo Rizzuti at FreeDigitalPhotos.net