Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Patient Groups / UK / 516 views / Popular
CAUK was founded in 2005 by Dr Ian Stuart. Ian had a bleed from a...
Patient Groups / UK / 525 views / Popular
There are many children born in the UK and across the world with a rare...
Patient Groups / 539 views / Popular
A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 565 views / Popular
Behçet’s UK represents all Behçet’s patients in the UK including those yet to be diagnosed. We...
Patient Groups / UK / 568 views / Popular
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...
Journals and Articles / 574 views / Popular
An immersive experience organised and funded by Kyowa Kirin to tell the stories of real people...
Learning Resources / 588 views / Popular
Ataxia UK is the leading charity in the UK that supports people affected by any...
Patient Groups / UK / 620 views / Popular
Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders...
Patient Groups / UK / 622 views / Popular
NSPKU's goal is to support individuals and families living with (Phenylketonuria) PKU across the UK...
Patient Groups / UK / 627 views / Popular
Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...
Patient Groups / Ireland / 628 views / Popular
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 666 views / Popular
ArchAngel MLD Trust was established to support medical teams around the world who are working...
Patient Groups / UK / 675 views / Popular
The DFSG is a UK national charity, run by families for families affected by Duchenne...
Patient Groups / UK / 681 views / Popular
Cystinosis is a rare inherited disease occurring in about 1 in 200,000 births within developed...
Patient Groups / UK / 694 views / Popular
Birt-Hogg-Dubé syndrome is an inherited condition, characterised by the development of fibrofolliculomas (benign skin tumours),...
Patient Groups / UK / 722 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 / 788 views / Popular
Founded in 1981, Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders...
Patient Groups / UK / 797 views / Popular
The CATS Foundation supports families affected by Tay-Sachs and Sandhoff disease. The CATS Foundation was...
Patient Groups / UK / 813 views / Popular