Limited Information
Because rare diseases affect so few people, there is often less information available about symptoms, progression and treatment options.
Rare Disease Education
Understanding rare diseases and supporting patients
Access educational resources, disease information and external support networks for patients and caregivers navigating rare conditions.
What Makes a Disease "Rare"?
A rare disease diagnosis can feel isolating, but resources, information and support networks are available for patients and families.
The Definition
A disease is considered rare when it affects fewer than 1 in 2,000 people. While each individual rare disease affects a small number of people, there are more than 7,000 known rare diseases - which means collectively, they touch the lives of millions.
The Challenges Patients Face
Living with a rare disease comes with unique challenges that can feel overwhelming. Understanding these challenges is the first step toward addressing them.
Delayed Diagnosis
The lack of awareness can lead to delayed or incorrect diagnoses, sometimes taking years before patients receive the right answers.
Limited Treatment Options
Many rare diseases have inadequate or no approved treatments, leaving patients and families searching for solutions.
Uneven Access to Care
Where treatments do exist, access can be inconsistent, varying by country, region or healthcare system.
What the Rare Disease Community Needs
More Research
Better understanding of rare diseases through scientific investigation and clinical studies
Better Therapies
Development of effective treatments that improve quality of life and outcomes
Global Collaboration
A connected network of experts, researchers, clinicians and patient communities sharing knowledge
Resources for Every Step of Your Journey
Each disease section provides comprehensive, easy-to-understand information to help you navigate your rare disease journey with confidence
Understanding the Condition
Comprehensive information about symptoms, diagnosis and progression
Living with the Condition
Practical guidance for patients and caregivers on daily management
Patient Associations
Connect with support groups and advocacy organisations worldwide
Treatment Resources
Information about available treatments and clinical care
Conditions We Serve
Select a condition to learn more about the disease, treatment options and support resources
Maladie de Wilson
A rare genetic disorder that causes copper to accumulate in the liver, brain and other vital organs
Learn More
West's Syndrome
A rare epileptic disorder affecting infants, characterised by infantile spasms and developmental challenges
Learn More
Glioblastome
A fast-growing type of brain cancer and the most common form of aggressive brain cancer in adults.
Learn MoreConnect with the Rare Disease Community
Support groups, global organisations and community networks are available so you do not have to navigate this journey alone.
Patient Support Groups
Find specialised support groups for Wilson's disease, West's syndrome and other rare conditions in your country.
Explore groupsEURORDIS (Europe)
European Organisation for Rare Diseases - a voice for rare disease patients across Europe.
Visit websiteNORD (USA)
National Organisation for Rare Disorders - committed to the identification and treatment of rare diseases.
Visit website