Survey: Help Improve Rare Disease Research
Developing quality statements for rare disease via consensus across the rare disease community
The Rare Disease Quality Statement Project is gathering insights from patients, caregivers, and researchers to improve rare disease research and support. Your feedback is invaluable in shaping better resources and outcomes.
📢 Take the survey now: RareDiseaseQS.org
Recent Blog Posts
Patient Survey: Improving the Delivery of Genetic Results
CAH is a rare genetic condition and many of us will have received results of genetic testing at some point on our CAH journey. When you received these reults might not have been at the best time - pehaps you received genomic test results while you were driving, on...
Webinar: Finding Your Way – A Parent’s Guide to Rare Disease
Join the NHS South East Genomic Medicine Service and Unique on Wednesday 16th September 2026 at 12-1pm on Teams to celebrate the launch of “Finding Your Way: A Parent's Guide to Rare Disease”. Written by parents, for parents, this new guide offers practical support,...
New report highlights access gap for innovative medicines
The CAH Support Group recently provided input into a new Medicines Australia report about access to innovative medicines in Australia. The report, now published, warns that Australian patients are missing access to some innovative medicines available in comparable...