An immersive experience organised and funded by Kyowa Kirin to tell the stories of real people...
Learning Resources / 600 views / Popular
Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...
Journals and Articles / 588 views / Popular
Behçet’s UK represents all Behçet’s patients in the UK including those yet to be diagnosed. We...
Patient Groups / UK / 583 views / Popular
A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...
Learning Resources / UK / 581 views / Popular
DEBRA is the national charity and patient support organisation for people living with or directly...
Patient Groups / UK / 562 views / Popular
There are many children born in the UK and across the world with a rare...
Patient Groups / 556 views / Popular
CAUK was founded in 2005 by Dr Ian Stuart. Ian had a bleed from a...
Patient Groups / UK / 541 views / Popular
Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
Patient Groups / UK / 535 views / Popular
The Loeys-Dietz Syndrome Foundation Canada is a Canadian charitable organization dedicated to the promotion of...
Patient Groups / 506 views / Popular
We are the only organisation in the UK & Ireland dedicated to improving the lives...
Patient Groups / 494 views
The Rare Diseases Society Nepal is the umbrella organisation for the rare disease patients of...
Patient Groups / 489 views
A UK-registered charity, AMEND is a patient group providing information and support services to families...
Patient Groups / 486 views
Clinical Pearls: An interactive body map to help you manage the complexities associated with FOP,...
Learning Resources / 461 views
PEM Friends is a patient led group for those suffering from the rare bullous diseases...
456 views
In-depth characterisation of a cohort of individuals with missense and loss-of- function variants disrupting FOXP2...
Learning Resources / 373 views
Alström Syndrome UK (ASUK) is a charity who provide information, support and advice for individuals...
Patient Groups / 342 views
We are constantly developing medical and psychological information in relation to vascular malformations in multiple...
336 views
We run a Genetic Counsellor-led Helpline for those affected by a genetic condition and their...
317 views
Fact sheet on 'what is CMT' and 'what are the symptoms of CMT', produced by...
Factsheets / 313 views
The Children’s Hyperinsulinism Charity (1165562) Our Charity was set up in February 2016 after a...
310 views