The UK Rare Diseases Framework Board meets twice a year to provide high level alignment and co-ordination of rare disease policy and action plans across the four nations. It is co-chaired by Deputy Chief Medical Officer (DCMO) for England, Jeanelle de Gruchy, and a “rotating official of equivalent seniority from the devolved administrations.” Meanwhile, the UK Rare Diseases Forum provides a mechanism for “supporting meaningful engagement and collaboration between members of the rare disease community, the UK Rare Diseases Framework Board, and nation specific delivery or implementation boards.”

The essential aim of the Framework is to ensure that the lives of people living with rare diseases continue to improve. It describes a rare disease as “a condition that affects less than one in 2,000 people.” But it is estimated that there are over 7,000 rare diseases, and counting.

Indeed, as has been reiterated often, although rare diseases are individually rare, they are collectively common, with one in 17 people being affected by a rare disease at some point in their lives. In terms of the UK population, this equates to over 3.5 million people.

To achieve its aim, therefore, the Framework seeks to build upon recent advances in diagnostic technologies, such as genomics and data analysis, increase awareness of rare diseases amongst HCPs, appropriately educate those involved in patient care, and continue to “build on the UK’s world-leading research and life sciences to improve access to innovative treatments and specialist care.”

The National Disease Registration Service (NDRS) is responsible for the “collection, curation, quality assurance, and analysis of comprehensive population-based rare disease data across England.” Unfortunately, rare diseases can present at any age and to any medical speciality. What’s more, current ‘health coding’ and classification systems are inadequate for rare diseases and the health system itself remains fragmented – as does patient data.

To this end, the Rare Disease Data Set (RDDS) is the national standard for collecting rare disease data in the NHS, supporting providers in the submission of data to NDRS. The data set also aligns well with the European Commission Set of Common Data Elements for Rare Disease Registration (CDS), which contains 16 data elements considered essential for further research, including a patient's personal data, diagnosis, disease history and care pathway, information for research purposes, and about their disability.

According to Genomics England – which uses the term ‘rare conditions”, instead – rare disease causes can be grouped into the genetic and the environmental. Approximately 80% of rare conditions are genetic, however. This can “range from very small glitches in […] genetic code, to an entire extra chromosome that contains hundreds of extra genes.” Environmental factors, by contrast, include infections, allergies, deterioration of body tissues and organs, or disruption to foetal development.

This was a strong catalyst for development of the original 2013 UK Strategy for Rare Diseases. It goes without saying that patients with a rare condition and their families face a lifetime of complex care, with considerable impact on their education, financial situation, mobility, and mental health.

Genomics England's very first initiative – sequencing 100,000 genomes from around 85,000 NHS patients affected by rare disease or cancer, with recruitment completed in 2018 – led to groundbreaking insights. Over 190 rare diseases were included in the 100,000 Genomes Project. This pushed the UK being to the forefront of “harnessing the potential of cutting-edge genomic science” for rare disease patients, helping one in four patients with an undiagnosed rare condition receive a diagnosis for the first time.

Furthermore, it propelled genomics into frontline healthcare: the NHS Genomic Medicine Service (GMS) in partnership with Genomics England; the Precision Medicine Scotland Innovation Centre and NHS Scotland Laboratory Services Genetics Consortium in Scotland; Genomics Partnership Wales; and the development of genomic medicine services in Northern Ireland supported by the GenOCEANIC (Genomics Open Core Engine for Accelerating Northern Ireland Care) IT project.

Indeed, the roll-out of whole genome sequencing (WGS) under the GMS in England will be a boon for rare disease diagnosis. Last year, the GMS carried out over 340,000 genomic tests for rare disease, including over 40,000 whole genome equivalents as part of the routine WGS service. Around 40% of WGS carried out as part of the NHS Rapid Whole Genome Sequencing Service for “acutely unwell children with a likely monogenic disorder” resulted in a diagnosis.

Then, there’s the Generation Study, which aims to sequence the genomes of 100,000 newborn babies to test for “over 200 rare diseases where outcomes for babies could be improved if they are diagnosed and treated early.” As of 13^th January 2026, the study had recruited more than 36,056 participants from over 72 hospitals across England. With parental consent, the genomic and health data is stored in the National Genomic Research Library (NGRL).

And, in terms of educational benefit for healthcare professionals, there is GeNotes, an innovative digital educational resource for HCPs, from the NHS England Genomics Education Programme (GEP), which now includes 12 specialties, with almost 600 resources covering more than 150 rare diseases.

In terms of improving access, the EAMS was launched in 2014 – again, under the original strategy – to give people across the UK “early access to new medicines that do not yet have a marketing authorisation, when there is a clear unmet clinical need.” This has benefitted, in particular, patients living with Duchenne muscular dystrophy and haemophilia.

But, as of May 2026, ITF Pharma had reached a commercial arrangement that will make its therapy for Duchenne muscular dystrophy, Duvyzat (givinostat), an option for more than 500 NHS ambulatory patients aged six and over in England. The lengthy appraisal took nearly two years, delayed while Italfarmaco subsidiary ITF Pharma and NHS England finalised commercial parameters for access and to allow time for the recently changed cost-effectiveness threshold to kick in.

In haemophilia, as of August 2025, more people living with haemophilia A in the UK were able to get access to Roche/Chugai's subcutaneous Hemlibra, thanks to a decision by NHS England to make it an option for all patients. Hemlibra (emicizumab) can now be used as prophylaxis in patients of all ages with moderate haemophilia A. Hemlibra was first cleared for NHS commissioning for severe haemophilia A with inhibitors in 2018, and had its use extended to patients without inhibitors the following year.

NHS England has also worked with NICE to implement two managed access agreements (MAA), one of which is for patients with spinal muscular atrophy (SMA). Indeed, in July this year, a national newborn screening programme for SMA in England was announced. The UK has approved three disease-modifying medicines for SMA, including Biogen's Spinraza (nusinersen), Roche's Evrysdi (risdiplam), which have to be dosed chronically, and Novartis' one-shot gene therapy Zolgensma (onasemnogene abeparvovec), which are all covered for use by the NHS in England and can have a dramatic impact on the course of the disease. The national screening programme in England began only in October 2026.

The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), led by Public Health England, was formed in 2015. It meets with patient groups to discuss collaborations to both expand the number of rare diseases collected and share data with existing registers. It records people with congenital anomalies and rare disease across the whole of England. NCARDRS data is collected from 244 healthcare providers across England on over 1,400 rare diseases and congenital anomalies. The registration service has worked in partnership with clinical and patient groups to “establish and validate new data sources and support efforts to improve patient outcomes.”

Additionally, in October 2019, the UK government launched the National Conversation on Rare Diseases Survey to seek the views of patients, their families, clinicians, researchers, and rare diseases patient organisations. Over just six weeks, 6,293 community responses were received. These, after discussion by the Board and Forum, informed the four key priorities of the Framework for the next five years, together with the five underpinning themes of patient voice, national and international collaboration, pioneering research, digital, data and technology, and wider policy alignment.

As stated by Ashley Dalton MP, Parliamentary Under-Secretary of State for Public Health and Prevention, in the England Rare Diseases Action Plan 2026, such challenges as those presented by rare conditions is why the UK government published the recent NHS 10-Year Plan, setting out the mission to build a health service fit for the future, shifting from analogue to digital, from hospital to community where appropriate, and from sickness to prevention through earlier intervention.

While there are now the Medicines and Healthcare products Regulatory Agency’s (MHRA) position paper on creating a facilitative regulatory system for new therapies and the National Institute for Health and Care Excellence (NICE) publication of a new quality standard for rare diseases, as well as the development of a new NHS framework for individualised genetic therapies (designed for a specific patient) and the treatment of the first patient with an individualised therapy in the NHS, together with new funding for two pilot centres for people with undiagnosed rare conditions – there is, however, still more work to be done.

At the end of the day, improving the lives of those living with rare diseases goes beyond healthcare. As well as addressing the priorities in the UK Rare Diseases Framework, the needs of rare disease patients must be recognised in wider policy development, in mental health, social care, specialist educational support, and long-term workforce planning. In short, in the public domain.

Linked throughout this article are specific rare disease charities and patient advocacy groups. While it remains to be seen what will happen post-January 2027, we encourage you to explore the different rare disease communities further and piece together and understand as much as possible just how much work remains to be done to address the challenges faced by those living with rare diseases – rare conditions – and ensure greater health equity in a nearby tomorrow.