Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...
Patient Groups / Ireland / 648 views / Popular
There are many children born in the UK and across the world with a rare...
Patient Groups / 555 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Patient Groups / UK / 535 views / Popular
DEBRA is the national charity and patient support organisation for people living with or directly...
Patient Groups / UK / 561 views / Popular
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 689 views / Popular
A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 580 views / Popular
We are the only organisation in the UK & Ireland dedicated to improving the lives...
Patient Groups / 493 views
The Loeys-Dietz Syndrome Foundation Canada is a Canadian charitable organization dedicated to the promotion of...
Patient Groups / 505 views / Popular
This module provides an overview of genetic haemochromatosis, including the signs, symptoms, diagnosis, treatment, and...
Learning Resources / UK / 601 views / Popular
Clinical Pearls: An interactive body map to help you manage the complexities associated with FOP,...
Learning Resources / 461 views
A UK-registered charity, AMEND is a patient group providing information and support services to families...
Patient Groups / 486 views
We are constantly developing medical and psychological information in relation to vascular malformations in multiple...
336 views
PEM Friends is a patient led group for those suffering from the rare bullous diseases...
455 views
CJD is one of a group of rare and invariably fatal diseases called prion diseases,...
Patient Groups / 688 views / Popular
In-depth characterisation of a cohort of individuals with missense and loss-of- function variants disrupting FOXP2...
Learning Resources / 371 views
The Rare Diseases Society Nepal is the umbrella organisation for the rare disease patients of...
Patient Groups / 489 views
Alström Syndrome UK (ASUK) is a charity who provide information, support and advice for individuals...
Patient Groups / 342 views
RACC – UK is led by an enthusiastic and motivated Board of Trustees with a...
Patient Groups / 292 views
Self-management toolkit Mast Cell Action are delighted to be able to share their self-management resource,...
Learning Resources / 298 views
We run a Genetic Counsellor-led Helpline for those affected by a genetic condition and their...
315 views