We are a national patient-based information and support charity. Predominantly we provide resources for patients,...
56 views
CHAMP1 UK is a charity who provide information, support and advice for individuals affected by...
69 views
The Children’s Hyperinsulinism Charity (1165562) Our Charity was set up in February 2016 after a...
288 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
Self-management toolkit Mast Cell Action are delighted to be able to share their self-management resource,...
Learning Resources / 280 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
The Loeys-Dietz Syndrome Foundation Canada is a Canadian charitable organization dedicated to the promotion of...
Patient Groups / 487 views
We are the only organisation in the UK & Ireland dedicated to improving the lives...
Patient Groups / 473 views
A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 564 views / Popular
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 666 views / Popular
