We are a national patient-based information and support charity. Predominantly we provide resources for patients,...
56 views
Fact sheet on 'what is CMT' and 'what are the symptoms of CMT', produced by...
Factsheets / 288 views
We run a Genetic Counsellor-led Helpline for those affected by a genetic condition and their...
299 views
RACC – UK is led by an enthusiastic and motivated Board of Trustees with a...
Patient Groups / 277 views
Alström Syndrome UK (ASUK) is a charity who provide information, support and advice for individuals...
Patient Groups / 321 views
The Rare Diseases Society Nepal is the umbrella organisation for the rare disease patients of...
Patient Groups / 465 views
In-depth characterisation of a cohort of individuals with missense and loss-of- function variants disrupting FOXP2...
Learning Resources / 353 views
CJD is one of a group of rare and invariably fatal diseases called prion diseases,...
Patient Groups / 661 views / Popular
PEM Friends is a patient led group for those suffering from the rare bullous diseases...
436 views
We are constantly developing medical and psychological information in relation to vascular malformations in multiple...
315 views
A UK-registered charity, AMEND is a patient group providing information and support services to families...
Patient Groups / 471 views
Clinical Pearls: An interactive body map to help you manage the complexities associated with FOP,...
Learning Resources / 446 views
This module provides an overview of genetic haemochromatosis, including the signs, symptoms, diagnosis, treatment, and...
Learning Resources / UK / 578 views / Popular
DEBRA is the national charity and patient support organisation for people living with or directly...
Patient Groups / UK / 543 views / Popular