This is a non-exhaustive list of organisations and online portals providing a broad range of information about rare diseases including definitions, causes, treatments, and publications about rare diseases to patients, their families and professionals in the field.

Reference databases

Orphanet

Orphanet is a multi-lingual the reference portal on rare diseases and orphan drugs, providing information on 6, 000 diseases. It offers a wide range of services, including an encyclopedia of rare diseases, a database of services and an inventory of orphan drugs.

orpha.net

PubMed

PubMed provides access to more than 21 million MEDLINE citations, life science journals, and links to many sites providing full text articles free of charge.

ncbi.nlm.nih.gov

US

National Organization for Rare Disorders (NORD)

NORD, a US not-for-profit organisation, is a unique federation of voluntary rare disease organisations. It is dedicated to helping those affected by rare diseases and assisting organisations that serve them.

rarediseases.org

Disease InfoSearch

Disease InfoSearch is an online search tool and database of resources for genetic conditions and a repertory of disease-specific advocacy organisations in the Genetic Alliance network.

geneticalliance.org

Genetics Home Reference

Genetics Home Reference, produced by the US National Library of Medicine, provides information about more than 650 genetic conditions and the genes or chromosomes related to them.

ghr.nlm.nih.gov

Find help

The following national and regional organisations provide impartial information and counselling on rare diseases and disabilities for rare disease patients, their families, and professionals in the field.

Denmark

Center for Rare Diseases and Disabilities

csh.dk

France

Maladies Rares Info Services

maladiesraresinfo.org

Italy

ISS (Istituto Superiore di Sanità)

iss.it

UNIAMO (Federazione Italiana Malattie Rare)

uniamo.org

Latin America

GEISER (Grupo de Enlace, Investigacion y Soporte Enfermedades Raras)

fundaciongeiser.org

Norway

Frambu Center for Rare Disorders

frambu.no

Portugal

Linha Rara
http://www.linharara.pt

Spain

FEDER SIO (Servicio de Informacia y Orientacion)

enfermedades-raras.org

Sweden

Swedish Information Center for Rare Diseases

socialstyrelsen.se

UK

CLIMB (Metabolic Diseases, UK)

climb.org.uk

US

Genetic and Rare Diseases Information Center (GARD)

rarediseases.info.nih.gov

Find a patient organisations or others affected

After a rare disease diagnosis, many people seek patient organisations or groups. They not only find specific information about their disease, but also comfort in knowing that they are not alone. The following websites may help you to find a support group and break the isolation.

Europe

Orphanet

Orphanet support groups search by disease and country

orpha.net

Germany
Nakos - Nationale Kontakt und Informationsstelle zur Anregung und Unterstützung von Selbsthilfegruppen

US

National Organization for Rare Disorders (NORD)

Alphabetical list of disease specific patient organisations

rarediseases.org

NIH Directory of Health Organizations

Search by disease as well as a Health Hotlines

dirline.nlm.nih.gov

International

Contact a Family (CAF)

CAF provides an A-Z of conditions as well as medical information on disabilities and rare disorders and details of support groups.

cafamily.org.uk

Orphan drugs

An orphan drug is a pharmaceutical agent that has been developed specifically to treat a rare medical condition, the condition itself being referred to as an orphan disease.

The EMA (European Medicines Agency) in the EU and the FDA in the US are both government agencies which evaluate medicinal products. On their websites you’ll find more information concerning the designation of medicines for rare diseases.

EMA (European Medicines Agency)

ema.europa.eu

FDA (Food and Drug Administration)

fda.gov

National Alliances

A national rare disease alliance unites all rare disease organisations in a particular country.

Consult National Alliances for rare disease patient groups in Europe and worldwide.

European or International Networks

Federations and networks provide a platform for exchanging experiences and information on specific diseases or group of diseases.

Consult EURORDIS member organisations that are federations or networks on a European or international level.

To find a patient group for your disease search our member patient organisations by country. You can also consult our list of national rare disease alliances which serves to bring together all the many rare disease organisations in a particular country.

Ask your doctor

EURORDIS cannot respond to questions concerning the medical aspects of a rare disease. EURORDIS does not employ qualified medical personnel or information specialists to give medical advice, diagnose illness, or offer referrals.

We strongly recommend that you seek the advice of your health care provider with questions regarding medical care.

Lastly, if you still need help email us at eurordis@eurordis.org