Rare disease diagnosis often takes years. Learn why delays occur, the barriers patients face, and how genomic testing is helping improve diagnosis.
Independent analysis of rare disease, diagnostics, treatment and policy gaps.
Clear reporting, explainers and resources for patients, professionals and decision-makers.
Understanding the Rare Disease Diagnostic Journey
Rare disease diagnosis often takes years. Learn why delays occur, the barriers patients face, and how genomic testing is helping improve diagnosis.
Rare Disease as a Systems Challenge: Policy, Data, and Care
Explore rare disease as a systems challenge shaped by governance, data, and care design. See why long horizon, integrated approaches improve outcomes.
How to Interpret “Breakthrough” Treatment Claims in Rare Diseases
Learn how to critically assess “breakthrough” treatment claims in rare disease research. Understand evidence stages, avoid hype cycles, and set realistic expectations based on science.
Reshaping Rare Disease Care: The Role of Genetic Testing and Counselling
Learn how genetic testing and counselling work in rare diseases, and how this integrated approach supports earlier diagnosis and informed care.
Supporting Your Child's Mental Health Through Chronic Illness
Support your child’s mental health through chronic illness with practical strategies to build resilience, encourage communication, and strengthen support systems.
Endpoints in Rare Disease Clinical Trials
Explore how endpoints are defined in rare disease clinical trials, the challenges of small populations, and the growing role of patient-reported outcomes in regulatory decisions.
