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 precautions they should take. For patients A team of clinical genetics doctors working in collaboration with the British Society for Genetic Medicine, the Clinical Genetics Society and Aimes (a healthcare IT […]
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’. […]
‘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 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 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.
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 at a revision tool that she has created about small vessel vasculitis. Thank you to Mariam and the lovely team at Vasculitis UK who she […]
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 working at the Royal Sussex County Hospital, and is an M4RD ambassador. As a medical student/junior doctor, we are often told to remember the adage that […]
Today is Acromegaly Awareness Day 2018 so take this opportunity to brush up on signs, symptoms and management of this rare disease with a video from Dan Jeffries