At the beginning of the COVID-19 pandemic of early 2020, a group of concerned advocates came together to take Action for Rare Disease Empowerment. The group became known as ARDEnt […]
This week changemaker David Rose speaks with our CEO Lucy about what it is like to live with the ultra-rare disease occipital horn syndrome, advocacy efforts and the I am number 17 […]
Rare Disease 101 Today Medics4RareDiseases has launched its online, interactive e-learning platform dedicated to teaching medics the fundamentals of rare disease and help them manage both their undiagnosed and diagnosed […]
Rare Disease 101 Today Medics4RareDiseases has realised a long-term goal: we have created Rare Disease 101 training for medical professionals. RD101 is an online and interactive education module created for […]
Written by Dr Katherine Colvin, European Medical Journal (EMJ) Rare diseases are individually rare, but collectively common. Rare diseases, each occurring in fewer than 1 in 2,000 people (EU definition1), affect 3.5–5.9% […]
Melissa Clasen, genetic counsellor, has recently moved from South Africa to work in London. In this article she discusses some of the unique differences in access to care, support and […]
UCL Great Ormond Street Institute of Child Health has responded to the considerable anxiety and confusion among many people living with rare diseases about their level of risk from COVID-19 and the […]
We’re working with UCL to find someone to help develop a patient registry for BBS UCL are setting up a professional registry for people in the UK with the rare genetic condition […]
written by Dr Thomas Dunne What is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a rare genetic condition that causes progressive weakness and wasting of the muscles. It is […]
Sarah Lippett spent eleven years suffering with symptoms from an unknown condition, until she was diagnosed with the rare disease, Moyamoya, at the age of 17. This November she is […]