The Loeys-Dietz Syndrome Foundation Canada is a Canadian charitable organization dedicated to the promotion of...
Patient Groups / 1062 views / Popular
We are the only organisation in the UK & Ireland dedicated to improving the lives...
Patient Groups / 1028 views / Popular
A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 952 views / Popular
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 1161 views / Popular
DEBRA is the national charity and patient support organisation for people living with or directly...
Patient Groups / UK / 1034 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Patient Groups / UK / 955 views / Popular
There are many children born in the UK and across the world with a rare...
Patient Groups / 991 views / Popular
Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...
Patient Groups / Ireland / 1067 views / Popular
CAUK was founded in 2005 by Dr Ian Stuart. Ian had a bleed from a...
Patient Groups / UK / 939 views / Popular
Founded in 1981, Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders...
Patient Groups / UK / 1295 views / Popular
Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders...
Patient Groups / UK / 1199 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Learning Resources / 3818 views / Popular
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...
Journals and Articles / 976 views / Popular
Alex TLC is a trusted and experienced organisation offering support and information for all those...
Patient Groups / London / 1284 views / Popular
The idea for AcroTales came about after a project co-ordinated by Dan Jeffries, Tessa Murdoch and...
Learning Resources / 1478 views / Popular
At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates...
Journals and Articles / 1437 views / Popular
People living with rare disease often face a diagnostic odyssey, typically waiting years for a...
Journals and Articles / 2102 views / Popular
Designed to provide easily accessible and up to date information for anyone affected by genetic,...
Patient Groups / 1886 views / Popular
Neurofibromatosis type 1 (NF1) is a neurogenetic condition that approximately 1 in every 2,700 people...
Learning Resources / 2086 views / Popular
This toolkit sets out the latest thinking in EDS, including the new approaches to diagnosis...
Rare Disease Guidelines / 2277 views / Popular