This toolkit sets out the latest thinking in EDS, including the new approaches to diagnosis...
Rare Disease Guidelines / 1794 views / Popular
Neurofibromatosis type 1 (NF1) is a neurogenetic condition that approximately 1 in every 2,700 people...
Learning Resources / 1606 views / Popular
Designed to provide easily accessible and up to date information for anyone affected by genetic,...
Patient Groups / 1486 views / Popular
People living with rare disease often face a diagnostic odyssey, typically waiting years for a...
Journals and Articles / 1564 views / Popular
At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates...
Journals and Articles / 1032 views / Popular
Alex TLC is a trusted and experienced organisation offering support and information for all those...
Patient Groups / London / 820 views / Popular
Addison’s Disease is a rare endocrine condition where the adrenal glands cease to function, so that your...
Patient Groups / UK / 952 views / Popular
Wolfram Syndrome UK (WSUK) is the only charity and website in the UK for this...
Patient Groups / UK / 908 views / Popular
Ataxia UK is the leading charity in the UK that supports people affected by any...
Patient Groups / UK / 623 views / Popular
Dedicated to improving the lives of those affected by Dravet Syndrome through support, education and...
Patient Groups / UK / 853 views / Popular
Birt-Hogg-Dubé syndrome is an inherited condition, characterised by the development of fibrofolliculomas (benign skin tumours),...
Patient Groups / UK / 726 views / Popular
Cystinosis is a rare inherited disease occurring in about 1 in 200,000 births within developed...
Patient Groups / UK / 697 views / Popular
The CATS Foundation supports families affected by Tay-Sachs and Sandhoff disease. The CATS Foundation was...
Patient Groups / UK / 817 views / Popular
Supporting patients & families living with PIK3CA Related Overgrowth Spectrum (PROS). In January 2022 M4RD...
Patient Groups / UK / 868 views / Popular
myaware provides expert support and advice for people affected by myasthenia. In February 2022 M4RD...
Patient Groups / 916 views / Popular
The Pituitary Foundation is a national support and information organisation for pituitary patients, their families,...
Patient Groups / UK / 897 views / Popular
Behçet’s UK represents all Behçet’s patients in the UK including those yet to be diagnosed. We...
Patient Groups / UK / 570 views / Popular
Supporting families affected by Chronic Granulomatous Disorder (CGD) in the UK. In March 2022 M4RD...
Patient Groups / UK / 819 views / Popular
Primary Ciliary Dyskinesia (PCD) is a rare genetic disease affecting 1 in 15,000 people in...
Patient Groups / UK / 902 views / Popular
The TAPS Support Foundation is a registered charity dedicated to changing the way monochorionic twin...
Patient Groups / UK / 782 views / Popular