The Loeys-Dietz Syndrome Foundation Canada is a Canadian charitable organization dedicated to the promotion of...
Patient Groups / 1043 views / Popular
We are the only organisation in the UK & Ireland dedicated to improving the lives...
Patient Groups / 998 views / Popular
A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 938 views / Popular
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 1148 views / Popular
DEBRA is the national charity and patient support organisation for people living with or directly...
Patient Groups / UK / 1021 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Patient Groups / UK / 942 views / Popular
There are many children born in the UK and across the world with a rare...
Patient Groups / 967 views / Popular
Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...
Patient Groups / Ireland / 1048 views / Popular
CAUK was founded in 2005 by Dr Ian Stuart. Ian had a bleed from a...
Patient Groups / UK / 925 views / Popular
Founded in 1981, Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders...
Patient Groups / UK / 1279 views / Popular
Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders...
Patient Groups / UK / 1178 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Learning Resources / 3770 views / Popular
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...
Journals and Articles / 963 views / Popular
Alex TLC is a trusted and experienced organisation offering support and information for all those...
Patient Groups / London / 1269 views / Popular
The idea for AcroTales came about after a project co-ordinated by Dan Jeffries, Tessa Murdoch and...
Learning Resources / 1466 views / Popular
At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates...
Journals and Articles / 1429 views / Popular
People living with rare disease often face a diagnostic odyssey, typically waiting years for a...
Journals and Articles / 2082 views / Popular
Designed to provide easily accessible and up to date information for anyone affected by genetic,...
Patient Groups / 1872 views / Popular
Neurofibromatosis type 1 (NF1) is a neurogenetic condition that approximately 1 in every 2,700 people...
Learning Resources / 2070 views / Popular
This toolkit sets out the latest thinking in EDS, including the new approaches to diagnosis...
Rare Disease Guidelines / 2262 views / Popular
