STUDY IDENTIFIES RED FLAGS OF RARE DISEASE
Published in Orphanet Journal of Rare Diseases 21st May 2024: A new study, by Medics4RareDiseases, has identified seven ‘red flags, or clinical clues, that point to a patient having an […]
Research
Making the Unseen Seen: Rare disease and the lessons learned from the COVID-19 pandemic
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 […]
Red Flags Survey – an update
It’s been a while since we shared with you the progress we’ve made on the Red Flags of Rare Disease Survey that we conducted towards the end of 2018. As […]
A dual perspective on genomic medicine
Dr Charles Steward is the Patient Advocacy & Patient Engagement Lead at Congenica a digital health company based on the Wellcome Genome Campus UK. He has spent 26 years working […]
New Online Tool for Assessing COVID-19 Risk in People With Rare Genetics Diseases
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 […]
New Treatment for Spinal Muscular Atrophy
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 […]
‘The Suspense is Killing Me’ is launched to help find answers for children suffering from rare or undiagnosed diseases.
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 […]
Neurofibromatosis Type 1
The most common of the Neurofibromatoses, Neurofibromatosis Type 1 (NF1) is a condition that leads to tumors growing on nerves alongside effects on other organs. It affects approximately 1 in 2700 births, and can be due to autosomal dominant inheritance from the parents or new mutations in the gene NF1 in the affected child.
Small Vessel Vasculitis
Time for a little Rheumatology revision. In this article Dr Mariam Al-Attar, one of our M4RD Clinical Ambassadors, explains why she’s interested in Rheumatology. Plus you can have a look […]
Time To Think ‘Kawasaki Disease’
In this article, Sri Rambhatla reflects on one family’s experiences of Kawasaki Disease and reminds us of its clinical presentation, diagnosis and treatment. Srinivasa Rambhatla is an academic foundation doctor […]