Neurofibromatosis type 1 (NF1) is a genetic disorder with many and varied clinical manifestations, its...
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This toolkit sets out the latest thinking in EDS, including the new approaches to diagnosis...
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Neurofibromatosis type 1 (NF1) is a neurogenetic condition that approximately 1 in every 2,700 people...
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People living with rare disease often face a diagnostic odyssey, typically waiting years for a...
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Designed to provide easily accessible and up to date information for anyone affected by genetic,...
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At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates...
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ALK-positive lung cancer is a relatively rare form of lung cancer caused by the abnormal...
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Addison’s Disease is a rare endocrine condition where the adrenal glands cease to function, so that your...
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The Ectodermal Dysplasia Society is a charity dedicated to improving the health and well-being of...
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myaware provides expert support and advice for people affected by myasthenia. In February 2022 M4RD...
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Huntington's Disease Association exists to help people living with Huntington's disease to live a better...
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Wolfram Syndrome UK (WSUK) is the only charity and website in the UK for this...
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Primary Ciliary Dyskinesia (PCD) is a rare genetic disease affecting 1 in 15,000 people in...
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The Pituitary Foundation is a national support and information organisation for pituitary patients, their families,...
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The MPS Society provides support to families affected by one of 25 rare, life limiting...
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Supporting patients & families living with PIK3CA Related Overgrowth Spectrum (PROS). In January 2022 M4RD...
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Autoinflammatory UK is the UK's oldest and largest patient-run safe patient support group for patients...
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Dedicated to improving the lives of those affected by Dravet Syndrome through support, education and...
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Whether you’re directly affected by Aicardi-Goutières syndrome, are interested to know more about the condition...
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Muscular Dystrophy UK (previously known as the Muscular Dystrophy Campaign) is the charity bringing individuals,...
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