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 and bringing hope to those living with rare conditions. An award-winning festival that is as UNIQUE as the patients it champions. Featuring the brightest minds […]
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 adults. We will review the evolution of new genomic methodologies, including how they are informing our knowledge of kidney disease pathogenesis and outcomes, and their […]
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 […]
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 with Silver-Russell syndrome (SRS). Featuring Gracie Taylor, Patient Voice (& Science Insights Alumni) Prof Mary Porteous, SE Scotland Rare Disease Diagnostic Service Dr Emma Wakeling, Clinical Genetics and Genomics Consultant, Great […]
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 will take place at the RCPCH council chambers on 13th October 2022. Join the BPSU, NHS clinicians, and patient groups for what is looking to […]
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? 11.30 am Dr Robin Lachman (University College London) – Does Evidence-based Medicine Work for Rare Diseases? 12.00 pm Fleur Chandler (Sanofi) Putting it into perspective, […]
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 patient group leaders to learn more about the rare community and how you can get involved and continue your advocacy. What can you expect? The […]
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 […]
