Rare Disease Day 2025: new resources available
To mark this important day, the Genomics Education Programme has added to its range of educational resources covering various aspects of rare disease
As part of its work to support and meet the priorities set out in the England Rare Diseases Action Plan, which was developed in response to an urgent need to improve care and outcomes for patients with rare diseases, the programme has been working with partners to create tiered education that enables health professionals to feel better equipped to understand, recognise and manage rare disease in their practice.
Bitesize learning
The programme’s Bitesize series takes commonly asked questions and breaks down the answers in a short, easily digestible way, with graphics, videos and animations to bring content to life.
The brand new additions, ‘What is a rare disease?‘ and ‘What is the diagnostic odyssey?‘ tackle two of the most frequently-asked questions in this field of healthcare, providing useful summaries for anyone who is new to the subject.
Updated rare disease education hub
Our rare disease education hub is designed to act as a repository for all of our rare disease resources as well as further learning opportunities. A handful of new resources and articles have been added to the page in time for Rare Disease Day.
A new ‘Find resources’ section is now available to healthcare professionals who may be looking for information on particular topics, such as supporting a patient without a diagnosis, or with financial support. You can also find out more about helping patients take part in research.
Commitment to better outcomes
In addition to the resources already mentioned, the programme’s flagship GeNotes resource hosts a range of information to support clinicians with the effective identification and management of those affected by rare conditions. Articles such as ‘The diagnostic odyssey in rare disease‘ and ‘Mental health and rare disease‘ explore where we are now and just how far we have to go before excellent care for every person with a rare condition becomes a reality.
New resources covering topics such as research in the field of rare disease, the transition from paediatrics to adult care and what we mean by ‘syndromes without a name’ will be added to GeNotes in the coming weeks.
The GEP would like to thank our friends and partners at Medics for Rare Disease, and their network of patient groups, ambassadors and individuals, for their collaboration and wisdom in the development of these resources.
