Posted 2 weeks ago by Jo McPherson

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

 Journals and Articles / 13 views

Posted 2 months ago by Jo McPherson

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

 Patient Groups / 87 views

Posted 4 months ago by Daniel Lewi

The CATS Foundation was established in June 2011 by Daniel and Patricia Lewi after their...

 Patient Groups /  UK / 129 views

Posted 5 months ago by Tracy Lynch

This is a link to an article written for the Pediatric Research journal in USA...

 Journals and Articles /  UK / 154 views

Posted 5 months ago by Toby Borger

An online resource for all healthcare professionals who diagnose and/or treat ADA-SCID patients  http://www.ada-scid.online/?utm_source=ADA-SCIDSocietybanner&utm_medium=banner&utm_campaign=Live&utm_content=

 Learning Resources /  UK / 216 views

Max Appeal

Popular 

Posted 6 months ago by Claire Hennessey

Max Appeal is the UK registered charity supporting families affected by 22q11 Syndromes. The Consensus...

 Patient Groups /  UK / 188 views

Posted 6 months ago by Tony Thornburn

Herewith the link to Behçet’s syndrome/disease Medical Factsheets, prepared by our leading clinicians: https://behcets.org.uk/information-for-patients/behcets-medical-factsheets/ The...

 Factsheets /  UK / 205 views

Posted 6 months ago by Lucy McKay

Abstract:  The incidence of mental health disorders is significantly higher in individuals with a rare...

 Journals and Articles / 199 views

Posted 6 months ago by Lucy McKay

Abstract: Medical students automatically couple rare illnesses with biomedical minutiae. Upon meeting CS (pseudonym), a...

 Journals and Articles / 200 views

Posted 6 months ago by Lucy McKay

Abstract: Medical student training is largely focused on acquiring knowledge of diseases and their management,...

 Journals and Articles / 213 views

Posted 6 months ago by Lucy McKay

Abstract: Background Late and misdiagnoses of rare disease patients are common and often result in...

 Journals and Articles / 190 views

Posted 6 months ago by Lucy McKay

Abstract: This article presents an approach to "thinking genetically" in primary care. Busy practitioners often...

 Journals and Articles / 228 views

Posted 7 months ago by Jo McPherson

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

 Learning Resources / 257 views

Posted 7 months ago by Jo McPherson

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

 Rare Disease Guidelines / 242 views

Posted 7 months ago by Allan Muir

Based in the United Kingdom, we are a network of individuals, families, scientists, and healthcare...

 Patient Groups /  UK / 331 views

Posted 8 months ago by Helen Bedford-Gay

For a leaflet explaining the basic facts of FOP for patients and their family and...

 Factsheets / 258 views

FOP Friends

Popular 

Posted 8 months ago by Helen Bedford-Gay

FOP Friends is the UK's charity dedicated to supporting people who have been diagnosed with...

 Patient Groups /  UK / 351 views

Posted 8 months ago by Sarah Allard

The Gauchers Association provides support and advice to patients and their families, supports research, and...

 Patient Groups /  UK / 241 views

Posted 9 months ago by Tracy Lynch

We are the only charity and support group in the UK for individuals and families...

 Patient Groups /  UK / 283 views

Posted 9 months ago by Emily Cutting

Ataxia UK's updated and expanded Medical Guidelines were produced to help healthcare professionals in the...

 Rare Disease Guidelines /  London / 240 views

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