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We are a national patient-based information and support charity. Predominantly we provide resources for patients,...

44 views

Fact sheet on 'what is CMT' and 'what are the symptoms of CMT', produced by...

 Factsheets / 278 views

We run a Genetic Counsellor-led Helpline for those affected by a genetic condition and their...

291 views

RACC – UK is led by an enthusiastic and motivated Board of Trustees with a...

 Patient Groups / 267 views

Alström Syndrome UK (ASUK) is a charity who provide information, support and advice for individuals...

 Patient Groups / 315 views

The Rare Diseases Society Nepal is the umbrella organisation for the rare disease patients of...

 Patient Groups / 457 views

In-depth characterisation of a cohort of individuals with missense and loss-of- function variants disrupting FOXP2...

 Learning Resources / 344 views

CJD is one of a group of rare and invariably fatal diseases called prion diseases,...

 Patient Groups / 652 views / Popular

PEM Friends is a patient led group for those suffering from the rare bullous diseases...

428 views

We are constantly developing medical and psychological information in relation to vascular malformations in multiple...

308 views

A UK-registered charity, AMEND is a patient group providing information and support services to families...

 Patient Groups / 461 views

Clinical Pearls: An interactive body map to help you manage the complexities associated with FOP,...

 Learning Resources / 440 views

This module provides an overview of genetic haemochromatosis, including the signs, symptoms, diagnosis, treatment, and...

 Learning Resources /  UK / 567 views / Popular

DEBRA is the national charity and patient support organisation for people living with or directly...

 Patient Groups /  UK / 536 views / Popular