Young People’s Genomics Café
LIVE STREAMAre 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 […]
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 […]
Training for Health Professionals on hypermobility spectrum disorders(HSD) and Hypermobile Ehlers-Danlos syndrome (hEDS) The online course includes presentations and interactive case-based sessions for Health Professionals and those who wish to gain […]
Dr Sue Pemberton PhD is a qualified occupational therapist who was involved in setting up the Leeds based Chronic Fatigue Syndrome Service in 1990, one of the first NHS clinics […]
The implementation of next-generation sequencing technologies has enabled genomics to become a mainstream subject in medicine. The UK has now adopted Whole Genome Sequencing (WGS) in clinical practice, and the […]
FREE to attend, RAREfest22 is a public-facing, rare disease inspired festival featuring interactive talks, demos and exhibits, film and art showcasing ground-breaking science, visionary technology and pioneering organisations improving lives […]
Join us for this ONLINE event on Rare Disease Day 2023, find out about how rare genetic conditions, like SRS, are diagnosed and hear about what it’s like to live […]
11.00 am Introduction and welcome Tony Lockett (CPMR London) 11.05 am Dr Lucy McKay (Medics for rare diseases)- Can Medical Education Help in the Conduct of Research in Rare Diseases? […]
The Student Voice Prize is delighted to invite you to our second annual virtual rare disease day event 'Beyond the Student Voice Prize;' an opportunity to connect with peers and […]
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 […]