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’. […]
Jo McPherson News, raredisease, Uncategorised awareness, diagnosis, doctor, doctors in training, foundation doctors, medical education, medical school, medical student, rare disease, rare disease day 0
On this rare day take time to listen to a patient story and decide what you will do to make a difference to 300 million people living worldwide with a rare disease #DareToThinkRare On 29 February 2020 – a rare day indeed – we mark the thirteenth international Rare Disease Day coordinated annually by EURORDIS. On and around […]
We are delighted to be working with the CSF Leak Association who are currently offering a bursary to support a UK-based junior doctor to travel to, and attend, the 3rd annual Intacranial Hypotension Symposium on 8th February 2020 in Los Angeles.
Each year the British Paediatric Surveillance Unit (BPSU) invite paediatricians planning a surveillance study to apply for this bursary. The successful applicant receives a free slot on the BPSU Orange Card and a stipend towards their training needs. The 2019-20 application period is now open, with a deadline of Friday, 11 October. https://www.rcpch.ac.uk/education-careers/fellowships-and-prizes/bpsu-sir-peter-tizard-research-bursary
Same But Different is starting the conversation about baby and child death with their newest exhibit ‘30% Project’. It raises awareness of the statistic that 30% of those diagnosed with a rare disease will die before their 5th birthday.
Medics4RareDiseases registered as a UK charity who’s object is the relief of sickness and preservation of health of those suffering from rare diseases.