A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 881 views / Popular
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 1086 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Patient Groups / UK / 894 views / Popular
There are many children born in the UK and across the world with a rare...
Patient Groups / 904 views / Popular
Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...
Patient Groups / Ireland / 998 views / Popular
CAUK was founded in 2005 by Dr Ian Stuart. Ian had a bleed from a...
Patient Groups / UK / 871 views / Popular
Founded in 1981, Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders...
Patient Groups / UK / 1213 views / Popular
Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders...
Patient Groups / UK / 1071 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Learning Resources / 3564 views / Popular
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...
Journals and Articles / 902 views / Popular
Muscular Dystrophy UK (previously known as the Muscular Dystrophy Campaign) is the charity bringing individuals,...
Patient Groups / UK / 1206 views / Popular
NSPKU's goal is to support individuals and families living with (Phenylketonuria) PKU across the UK...
Patient Groups / UK / 961 views / Popular
The MPS Society provides support to families affected by one of 25 rare, life limiting...
Patient Groups / UK / 1290 views / Popular
An immersive experience organised and funded by Kyowa Kirin to tell the stories of real people...
Learning Resources / 904 views / Popular
Huntington's Disease Association exists to help people living with Huntington's disease to live a better...
Patient Groups / UK / 1384 views / Popular
The DFSG is a UK national charity, run by families for families affected by Duchenne...
Patient Groups / UK / 1033 views / Popular
ArchAngel MLD Trust was established to support medical teams around the world who are working...
Patient Groups / UK / 1014 views / Popular
Alex TLC is a trusted and experienced organisation offering support and information for all those...
Patient Groups / London / 1200 views / Popular
At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates...
Journals and Articles / 1353 views / Popular
People living with rare disease often face a diagnostic odyssey, typically waiting years for a...
Journals and Articles / 1996 views / Popular