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Wolfram Syndrome UK (WSUK) is the only charity and website in the UK for this...

 Patient Groups /  UK / 878 views / Popular

Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural...

 Patient Groups /  Ireland / 607 views / Popular

Neurofibromatosis type 1 (NF1) is a neurogenetic condition that approximately 1 in every 2,700 people...

 Learning Resources / 1576 views / Popular

Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders...

 Patient Groups /  UK / 594 views / Popular

The Pituitary Foundation is a national support and information organisation for pituitary patients, their families,...

 Patient Groups /  UK / 862 views / Popular

NSPKU's goal is to support individuals and families living with (Phenylketonuria) PKU across the UK...

 Patient Groups /  UK / 609 views / Popular

This toolkit sets out the latest thinking in EDS, including the new approaches to diagnosis...

 Rare Disease Guidelines / 1772 views / Popular

The Ectodermal Dysplasia Society is a charity dedicated to improving the health and well-being of...

 Patient Groups /  UK / 914 views / Popular

The CATS Foundation supports families affected by Tay-Sachs and Sandhoff disease. The CATS Foundation was...

 Patient Groups /  UK / 781 views / Popular

The TAPS Support Foundation is a registered charity dedicated to changing the way monochorionic twin...

 Patient Groups /  UK / 749 views / Popular

SOFT UK was founded in 1990 by Christine Rose and Jenny Robbins. As mothers, they...

 Patient Groups /  UK / 761 views / Popular

An immersive experience organised and funded by Kyowa Kirin to tell the stories of real people...

 Learning Resources / 572 views / Popular

Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...

 Learning Resources / 2309 views / Popular

There are many children born in the UK and across the world with a rare...

 Patient Groups / 522 views / Popular

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease affecting 1 in 15,000 people in...

 Patient Groups /  UK / 873 views / Popular

myaware provides expert support and advice for people affected by myasthenia. In February 2022 M4RD...

 Patient Groups / 886 views / Popular

Muscular Dystrophy UK (previously known as the Muscular Dystrophy Campaign) is the charity bringing individuals,...

 Patient Groups /  UK / 795 views / Popular

The MPS Society provides support to families affected by one of 25 rare, life limiting...

 Patient Groups /  UK / 852 views / Popular

Founded in 1981, Metabolic Support UK are the leading patient organisation for Inherited Metabolic Disorders...

 Patient Groups /  UK / 773 views / Popular

Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A...

 Journals and Articles / 551 views / Popular

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