Are you a young person interested in finding out more about genomics and health, or affected by a rare or genetic condition? Chromosomes! Dr Andrew Fry, Clinical Senior Lecturer in Medical Genetics, Cardiff University An Introduction to Pharmacogenomics Sophie Harding, Pharmacogenomics Lead, Royal Pharmaceutical Society of GB Medics4Rare Diseases Lucy McKay, CEO Medics4RareDiseases Everyone is […]
We are delighted to announce our 10th annual symposium and, for the first time since 2020, it’s returning live and in-person! SAVE THE DATE... Join us on Wednesday 15th February 2023 at 1 Wimpole Street for M4RD's annual symposium 'The Unusual Suspects: rare disease in everyday medicine'. The Unusual Suspects has been a popular event […]
It may be impossible for all doctors to have knowledge of more than 7,000 recognised rare diseases. However, it is feasible for all future and current medical professionals to learn when to suspect a rare disease, to appreciate that rare diseases are collectively common and to recognise the exceptional challenges faced by those affected. At […]
Rett syndrome is a rare, genetic, neurological disorder affecting mainly females (1:10,000) and very few males. It is present from conception. After a period of ‘near normal’ development, the child experiences a regression in key skills, usually mobility, speech and hand use between the ages of one and two years. The child may appear very […]
We are close to our “3rd International Conference on Lysosomal Diseases” which takes place 20-21 April 2023, in London, UK. The conference is offering 35% DISCOUNT on registration fee to students and fellows. Here is the link for the programme https://med-lysosomal.com/congress-agenda/ The abstract submission is open via the link https://med-lysosomal.com/abstracts/ Please contact Rosemarie to receive the discount […]