The Loeys-Dietz Syndrome Foundation Canada is a Canadian charitable organization dedicated to the promotion of...
Patient Groups / 1148 views / Popular
We are the only organisation in the UK & Ireland dedicated to improving the lives...
Patient Groups / 1126 views / Popular
A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 1007 views / Popular
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 1221 views / Popular
DEBRA is the national charity and patient support organisation for people living with or directly...
Patient Groups / UK / 1133 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Patient Groups / UK / 1015 views / Popular
There are many children born in the UK and across the world with a rare...
Patient Groups / 1069 views / Popular
Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...
Patient Groups / Ireland / 1134 views / Popular
CAUK was founded in 2005 by Dr Ian Stuart. Ian had a bleed from a...
Patient Groups / UK / 1009 views / Popular
Founded in 1981, Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders...
Patient Groups / UK / 1391 views / Popular
Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders...
Patient Groups / UK / 1277 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Learning Resources / 4023 views / Popular
Alex TLC is a trusted and experienced organisation offering support and information for all those...
Patient Groups / London / 1360 views / Popular
The idea for AcroTales came about after a project co-ordinated by Dan Jeffries, Tessa Murdoch and...
Learning Resources / 1524 views / Popular
At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates...
Journals and Articles / 1487 views / Popular
People living with rare disease often face a diagnostic odyssey, typically waiting years for a...
Journals and Articles / 2178 views / Popular
Designed to provide easily accessible and up to date information for anyone affected by genetic,...
Patient Groups / 1928 views / Popular
Neurofibromatosis type 1 (NF1) is a neurogenetic condition that approximately 1 in every 2,700 people...
Learning Resources / 2138 views / Popular
This toolkit sets out the latest thinking in EDS, including the new approaches to diagnosis...
Rare Disease Guidelines / 2344 views / Popular
The Royal Society of Medicine (RSM) is a leading provider of high-quality continuing postgraduate education...
Medical Institutions / London / 2710 views / Popular
