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

 Learning Resources /  UK / 543 views / Popular

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

 Patient Groups /  UK / 634 views / Popular

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

 Patient Groups /  UK / 496 views

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

 Patient Groups / 522 views / Popular

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

 Patient Groups /  Ireland / 607 views / Popular

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

 Patient Groups /  UK / 503 views / Popular

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

 Patient Groups /  UK / 773 views / Popular

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

 Patient Groups /  UK / 594 views / Popular

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

 Learning Resources / 2309 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

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

 Patient Groups /  UK / 795 views / Popular

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

 Patient Groups /  UK / 609 views / Popular

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

 Patient Groups /  UK / 852 views / Popular

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

 Learning Resources / 572 views / Popular

Huntington's Disease Association exists to help people living with Huntington's disease to live a better...

 Patient Groups /  UK / 880 views / Popular

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

 Patient Groups /  UK / 659 views / Popular

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

 Patient Groups /  UK / 656 views / Popular

Autoinflammatory UK is the UK's oldest and largest patient-run safe patient support group for patients...

 Patient Groups /  UK / 828 views / Popular

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

 Patient Groups /  UK / 914 views / Popular

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

 Patient Groups /  UK / 761 views / Popular

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