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 […]
Attend this meeting for a comprehensive update on the clinical management of genetic and inherited kidney diseases, including cystic and basement membrane disorders, podocytopathies and tubulopathies, in both children and […]
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 […]
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 […]
The BPSU is currently planning to hold its yearly Symposium on rare diseases on 18th October 2022 and are in the process of compiling an agenda for the day, which […]
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 […]
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 […]
