Posted 5 months ago by Jo McPherson

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

 Journals and Articles / 206 views

Posted 7 months ago by Jo McPherson

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

 Patient Groups / 296 views

Posted 12 months ago by Jo McPherson

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

 Learning Resources / 468 views

Posted 12 months ago by Jo McPherson

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

 Rare Disease Guidelines / 455 views