A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 213 views
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 240 views
DEBRA was established in 1978 by Phyllis Hilton, whose daughter Debra had Epidermolysis Bullosa (EB),...
Patient Groups / UK / 211 views
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Patient Groups / UK / 228 views
There are many children born in the UK and across the world with a rare...
Patient Groups / 247 views
Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...
Patient Groups / Ireland / 265 views
CAUK was founded in 2005 by Dr Ian Stuart. Ian had a bleed from a...
Patient Groups / UK / 254 views
Founded in 1981, Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders...
Patient Groups / UK / 326 views
Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders...
Patient Groups / UK / 275 views
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Learning Resources / 1037 views / Popular
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...
Journals and Articles / 273 views
Muscular Dystrophy UK (previously known as the Muscular Dystrophy Campaign) is the charity bringing individuals,...
Patient Groups / UK / 391 views
NSPKU's goal is to support individuals and families living with (Phenylketonuria) PKU across the UK...
Patient Groups / UK / 328 views
The MPS Society provides support to families affected by one of 25 rare, life limiting...
Patient Groups / UK / 454 views
An immersive experience organised and funded by Kyowa Kirin to tell the stories of real people...
Learning Resources / 352 views
Huntington's Disease Association exists to help people living with Huntington's disease to live a better...
Patient Groups / UK / 429 views
The DFSG is a UK national charity, run by families for families affected by Duchenne...
Patient Groups / UK / 372 views
ArchAngel MLD Trust was established to support medical teams around the world who are working...
Patient Groups / UK / 382 views
Autoinflammatory UK is the UK's oldest and largest patient-run safe patient support group for patients...
Patient Groups / UK / 429 views
The Ectodermal Dysplasia Society is a charity dedicated to improving the health and well-being of...
Patient Groups / UK / 581 views / Popular