Wolfram Syndrome UK (WSUK) is the only charity and website in the UK for this...
Patient Groups / UK / 902 views / Popular
Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...
Patient Groups / Ireland / 628 views / Popular
Neurofibromatosis type 1 (NF1) is a neurogenetic condition that approximately 1 in every 2,700 people...
Learning Resources / 1603 views / Popular
Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders...
Patient Groups / UK / 621 views / Popular
The Pituitary Foundation is a national support and information organisation for pituitary patients, their families,...
Patient Groups / UK / 894 views / Popular
NSPKU's goal is to support individuals and families living with (Phenylketonuria) PKU across the UK...
Patient Groups / UK / 627 views / Popular
This toolkit sets out the latest thinking in EDS, including the new approaches to diagnosis...
Rare Disease Guidelines / 1792 views / Popular
The Ectodermal Dysplasia Society is a charity dedicated to improving the health and well-being of...
Patient Groups / UK / 932 views / Popular
The CATS Foundation supports families affected by Tay-Sachs and Sandhoff disease. The CATS Foundation was...
Patient Groups / UK / 813 views / Popular
The TAPS Support Foundation is a registered charity dedicated to changing the way monochorionic twin...
Patient Groups / UK / 779 views / Popular
SOFT UK was founded in 1990 by Christine Rose and Jenny Robbins. As mothers, they...
Patient Groups / UK / 787 views / Popular
An immersive experience organised and funded by Kyowa Kirin to tell the stories of real people...
Learning Resources / 588 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Learning Resources / 2416 views / Popular
There are many children born in the UK and across the world with a rare...
Patient Groups / 539 views / Popular
Primary Ciliary Dyskinesia (PCD) is a rare genetic disease affecting 1 in 15,000 people in...
Patient Groups / UK / 900 views / Popular
myaware provides expert support and advice for people affected by myasthenia. In February 2022 M4RD...
Patient Groups / 911 views / Popular
Muscular Dystrophy UK (previously known as the Muscular Dystrophy Campaign) is the charity bringing individuals,...
Patient Groups / UK / 823 views / Popular
The MPS Society provides support to families affected by one of 25 rare, life limiting...
Patient Groups / UK / 880 views / Popular
Founded in 1981, Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders...
Patient Groups / UK / 797 views / Popular
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...
Journals and Articles / 573 views / Popular