Rare Diseases Action Plan and progress
We are a key partner in delivering the Rare Diseases Action Plan in England.
Progress in 2023
We are involved with these projects outlined in the 2024 plan:
UK Rare Disease Research Platform
Working with the Medical Research Council (MRC), we established a £14 million investment over five years for a UK Rare Disease Research Platform.
It is made up of a central coordination and administrative hub and 11 specialist nodes based at universities across the UK. The aim of the platform is to bring together expertise from across the UK rare disease research system to foster new and innovative treatments for those directly and indirectly impacted by rare conditions.
Find out more on the UK Research and Innovation website: New £14 million investment targets rare diseases
UK Rare Diseases Research Landscape Report
In September 2023 we published the UK Rare Diseases Research Landscape Report in collaboration with MRC, industry, charities and the devolved administrations. It covers a 5-year period from 2016 to 2021, presenting an overall picture of the rare disease research taking place across the UK, where it was happening and who funded it.
Find out more:
UK Rare Diseases Research Landscape Report
Reporting of rare disease data
The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) records those people with congenital abnormalities and rare diseases across the whole of England.
Our funded researchers now have to report relevant rare disease data to NCARDRS as a condition of funding.
Improving Be Part of Research
We carried out a survey on experiences of people living with rare conditions of using the Be Part of Research Platform so we can make improvements and make it easier for people to get involved in clinical trials
In the 2023 action plan we committed to engaging with the rare diseases community to seek their feedback on our Be Part of Research website.
We received 200 responses to our survey from people living with rare conditions and people caring for somebody living with a rare condition and now plan to make improvements based on feedback.
At least one member of the rare disease community will be included in future research for development of the service to ensure the patient voice is heard.
The rare disease community were invited to take part in private beta phase testing of the Be Part of Research platform user interface and a Genetic Alliance UK representative now sits on the Be Part of Research Advisory Group.
Findings from this survey and testing are going to be implemented over the coming year.
Bringing together research evidence on health inequalities
We plan to lead an evidence synthesis to bring together available evidence on health inequalities. This is to look at the possibility of including rare diseases in in NHSE’s Core20PLUS5 Framework, a framework that aims to tackle health inequalities in the NHS.
NIHR Bioresource
The NIHR BioResource comprises more than 250,000 recallable volunteers, with and without health conditions, who have consented to participate in research investigating the links between genes, the environment, health and disease.
This includes 3,505 new rare disease patients and relatives across 55 different rare diseases recruited into the Rare Diseases BioResource in 2023, taking the total to more than 25,000.
By screening participants for genes and/or phenotypes of interest, rare disease research that may have otherwise proven too costly or time-consuming is made possible.
Rare Diseases Action Plans
View the full DSHC action plans:
Rare Diseases Action Plan 2024