Looking for information on a condition?
Below is a list of online portals that provide information on rare diseases including definitions, causes, treatments, and publications for patients, families and professionals in the field.
The Centre for Genetics Education
The Centre for Genetics Education has a lot of information and education activities about genetic conditions for individuals and their families.
National Organization for Rare Disorders (NORD)
NORD’s Rare Disease Database provides brief introductions for patients and their families to more than 1,200 rare diseases.
Genetic and Rare Diseases Information Center
GARD maintains the most complete database of rare diseases in the U.S. and related terms to help people find reliable information.
Orpha.net is a multi-lingual reference portal on rare diseases and orphan drugs, providing information on over 6,000 diseases. It offers a wide range of services, including an encyclopedia of rare diseases, a database of services available in different countries, and an inventory of orphan medicinal products.
Health Professionals Register
GUARD is collating a register of Health Professionals with specialised knowledge and experience in rare and genetic diseases. Many of the register members are happy to be contacted by other Health Professionals eg. your GP or other specialists. You can search the register to see if there are any specialists in the condition you are interested in and then provide this information to your GP.