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 Bardet-Biedl syndrome (BBS). There are around 500 people with the condition in the UK and many of them attend the national BBS clinics in London […]
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 a spectrum of conditions most commonly caused by a gene defect on chromosome 5q called the ‘survival motor neuron gene 1’, referred to as ‘SMN1’. […]
emotive Reviews ‘The Unusual Suspects’ During the past year M4RD has been working closely with emotive – an independent, award winning global healthcare communications agency – who have helped us to not only rebrand but also worked with us pro-bono on strategy and awareness raising activities and so it was an absolute pleasure to have […]
Student Voice Prize 2019 Last month the winning essays from the Student Voice Prize 2019 were published in celebration of Rare Disease Day 2020! You can read all of them in full by following the links below and read the shortened runner-up blogs as part of the BMC’s On Medicine blog. The overall winner has been published […]
Medical Students asked to “Think Rare” Rare diseases affect approximately 350 million people worldwide, yet they are some of the most difficult conditions to diagnose. Despite the number of people affected and the challenge they pose for clinicians, the rarity of each individual condition means that little time is dedicated to them during medical school. […]
Project Y’s mission is to find answers for children with rare diseases, helping to find answers for thousands of families who desperately need them. Project Y supports advancing initiatives such as the Undiagnosed Diseases Program, a groundbreaking program bringing together specialist doctors, scientists and technology to solve the most challenging medical mysteries. 500,000 Australian children […]
The diagnostic odyssey is a term used to describe the long and arduous journey that many rare disease patients find themselves on in pursuit of a diagnosis. The charity, Rare Disease UK, estimate that a patient with a rare disease will wait an average of four years for a diagnosis and be given an average […]
M4RD in conjunction with Emotive are proud to reveal their new promotional video – just in time for Rare Disease Day 2019!