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

 Learning Resources /  UK / 919 views / Popular

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

 Patient Groups /  UK / 1122 views / Popular

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

 Patient Groups /  UK / 923 views / Popular

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

 Patient Groups / 942 views / Popular

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

 Patient Groups /  Ireland / 1028 views / Popular

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

 Patient Groups /  UK / 901 views / Popular

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

 Patient Groups /  UK / 1250 views / Popular

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

 Patient Groups /  UK / 1142 views / Popular

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

 Learning Resources / 3702 views / Popular

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

 Journals and Articles / 942 views / Popular

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

 Patient Groups /  UK / 1244 views / Popular

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

 Patient Groups /  UK / 994 views / Popular

Alex TLC is a trusted and experienced organisation offering support and information for all those...

 Patient Groups /  London / 1242 views / Popular

At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates...

 Journals and Articles / 1399 views / Popular

People living with rare disease often face a diagnostic odyssey, typically waiting years for a...

 Journals and Articles / 2043 views / Popular

Designed to provide easily accessible and up to date information for anyone affected by genetic,...

 Patient Groups / 1851 views / Popular

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

 Learning Resources / 2047 views / Popular

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

 Rare Disease Guidelines / 2228 views / Popular