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

 Patient Groups /  UK / 495 views

CAUK was founded in 2005 by Dr Ian Stuart. Ian had a bleed from a...

 Patient Groups /  UK / 503 views / Popular

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

 Patient Groups / 521 views / Popular

A brief description of Fragile X Syndrome: how it is caused, its effects, diagnostic tests,...

 Learning Resources /  UK / 543 views / Popular

Behçet’s UK represents all Behçet’s patients in the UK including those yet to be diagnosed. We...

 Patient Groups /  UK / 545 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

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

 Learning Resources / 571 views / Popular

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

 Patient Groups /  UK / 593 views / Popular

Ataxia UK is the leading charity in the UK that supports people affected by any...

 Patient Groups /  UK / 606 views / Popular

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

 Patient Groups /  Ireland / 606 views / Popular

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

 Patient Groups /  UK / 608 views / Popular

The Fragile X Society aims to improve the lives of those affected by Fragile X...

 Patient Groups /  UK / 633 views / Popular

ArchAngel MLD Trust was established to support medical teams around the world who are working...

 Patient Groups /  UK / 656 views / Popular

The DFSG is a UK national charity, run by families for families affected by Duchenne...

 Patient Groups /  UK / 658 views / Popular

Cystinosis is a rare inherited disease occurring in about 1 in 200,000 births within developed...

 Patient Groups /  UK / 674 views / Popular

Birt-Hogg-Dubé syndrome is an inherited condition, characterised by the development of fibrofolliculomas (benign skin tumours),...

 Patient Groups /  UK / 701 views / Popular

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

 Patient Groups /  UK / 747 views / Popular

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

 Patient Groups /  UK / 758 views / Popular

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

 Patient Groups /  UK / 773 views / Popular

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

 Patient Groups /  UK / 780 views / Popular

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