Clinical Pearls: An interactive body map to help you manage the complexities associated with FOP,...
Learning Resources / 455 views
Fact sheet on 'what is CMT' and 'what are the symptoms of CMT', produced by...
Factsheets / 305 views
We are constantly developing medical and psychological information in relation to vascular malformations in multiple...
330 views
Cystinosis is a rare inherited disease occurring in about 1 in 200,000 births within developed...
Patient Groups / UK / 708 views / Popular
Dan Jeffries is an incredibly funny and relatable speaker. His talk takes you through his...
Speakers / South West / 2043 views / Popular
DEBRA is the national charity and patient support organisation for people living with or directly...
Patient Groups / UK / 554 views / Popular
Dedicated to improving the lives of those affected by Dravet Syndrome through support, education and...
Patient Groups / UK / 862 views / Popular
The DFSG is a UK national charity, run by families for families affected by Duchenne...
Patient Groups / UK / 692 views / Popular
The Fragile X Society aims to improve the lives of those affected by Fragile X...
Patient Groups / UK / 683 views / Popular
A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 576 views / Popular
We run a Genetic Counsellor-led Helpline for those affected by a genetic condition and their...
311 views
Designed to provide easily accessible and up to date information for anyone affected by genetic,...
Patient Groups / 1494 views / Popular
This module provides an overview of genetic haemochromatosis, including the signs, symptoms, diagnosis, treatment, and...
Learning Resources / UK / 592 views / Popular
Supporting patients & families living with PIK3CA Related Overgrowth Spectrum (PROS). In January 2022 M4RD...
Patient Groups / UK / 881 views / Popular
Huntington's Disease Association exists to help people living with Huntington's disease to live a better...
Patient Groups / UK / 926 views / Popular
In-depth characterisation of a cohort of individuals with missense and loss-of- function variants disrupting FOXP2...
Learning Resources / 368 views
The Loeys-Dietz Syndrome Foundation Canada is a Canadian charitable organization dedicated to the promotion of...
Patient Groups / 499 views
At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates...
Journals and Articles / 1041 views / Popular
Self-management toolkit Mast Cell Action are delighted to be able to share their self-management resource,...
Learning Resources / 293 views
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...
Journals and Articles / 584 views / Popular