Rare Disease Day 2024
Did you know that 1 in 17 people will be affected by a rare condition at some point in their lives?
This year, Rare Disease Day falls on the rarest date in the calendar, Thursday 29 February. We want to highlight that although rare conditions are individually rare, they are collectively common. Today is dedicated to raising awareness of the over 7000 rare conditions affecting people across the UK.
With more than 3.5 million people in the UK living with a rare disease, the NHS is working to provide the most effective diagnosis, treatment and services for patients with rare conditions. Information for patients and families.
Support for patients and families
Genetic Alliance UK produce information for patients, families and anyone interested in genetic conditions. Here you’ll find information about the basics of genetics and inheritance of genetic conditions, information about research, different types of genetic testing, genetic services in the UK and reproductive techniques for people at risk of passing on a genetic condition, as well as information for living with a genetic condition.
Resources for healthcare professionals
One of the priorities of the UK Rare Diseases Framework (2021) is to “increase awareness of rare diseases among healthcare professionals”.
As part of England’s Rare Diseases Action Plan, work is ongoing to ensure all healthcare professionals are aware of rare diseases and 'think rare' when patients present with unusual symptoms.
Another way that NHS staff can improve their knowledge of rare conditions is through the Rare Disease Education Hub, which has lots of information on the different types of rare diseases and their diagnosis. Staff can find support on making the right genomic decisions at each stage of the clinical pathway through GeNotes, which provides educational information at the point of need, with opportunities for extended learning.
Useful links
The NHS National Rapid Whole Genome Sequencing Service
The world-leading rapid whole genome sequencing service (WGS) is a national service that has transformed the prospects for finding a diagnosis quickly, often in less than seven days, for critically unwell babies and children in intensive care suspected to have a rare condition.
This ground-breaking service has been developed and delivered by colleagues across the Royal Devon University Healthcare NHS Foundation Trust in partnership with the NHS England Genomics Unit and the University of Exeter.
We were delighted to work with NHS England to produce a short video about this service: