By Sheela Upadhyaya, a life sciences consultant specialising in rare disease

At the time of writing, we are on the cusp of Rare Disease Day 2024, which this year falls on 29 February. Reflecting on my 15-year journey in the field, I see remarkable developments in the rare disease community and heightened awareness. I am so proud of the strides forward made in the last few years, but there’s more work ahead.

Here, I summarise the progress made in all four UK nations in response to the UK Rare Diseases Framework, which demonstrates the steps being taken to address the issues faced by the rare diseases community. I also highlight the work of the Bio Industry Association, which resulted in an important report.

Looking ahead to the day itself, the article concludes with a selection of some of the events taking place in the UK and further afield.

Though individually rare, rare conditions collectively affect 3.5 million people in the UK. There are over 7,000 identified rare conditions, with eight out of 10 linked to genetic code changes.

England update

In June 2023, the UK Rare Diseases Framework Board partnered with NICE who designed and led a listening event to better understand how the NICE quality standard on transition from children’s to adults’ services could be adapted to ensure it is relevant to the needs of the rare diseases community. The workshop was attended by 17 people, the majority of whom had lived experience of transition themselves or as a parent or carer of a young person with a rare condition.

Participants evaluated whether the existing quality standard statements could better reflect the needs of young people with rare diseases, and if any new areas should be included.

NICE’s updated quality standard, which includes a new statement on a transition plan, was published for consultation in October 2023. Consultation was open for 4 weeks and received 63 responses. A revised quality statement, incorporating this feedback, was published on 14 December 2023, supported by a targeted communications strategy to promote awareness among the rare diseases community and with healthcare professionals. 

This is a positive step to recognising the needs of people living with rare diseases when transitioning from paediatric to adult services.

Scotland update 

Recent progress in Scotland has included the setting up of the Scottish Strategic Network for Genomic Medicine (SSNGM), in August 2022. The SSNGM maintains an online Rare and Inherited Diseases Genomic Test Directory and the Scottish Genomics Test Advisory Group has recently been established (SG-TAG) to review new genomic tests in rare and inherited disease.

In December 2022, Scotland’s Rare Disease Action Plan set out measures to ensure that all people living with a rare disease in Scotland are able to access the best possible care and support by putting into action the priorities of the UK Rare Diseases Framework. 

Since the action plan’s publication, progress has been made in several areas, including the launch of Scotland’s rare disease registry, the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (known as CARDRISS), in summer 2023.

The Scottish Government has developed an NHS Inform page on rare conditions to provide access to key information and linked resources that may be useful for the rare disease community.

Scottish Government officials are preparing to support a number of events for Rare Disease Day this year and are co-ordinating with England, Wales and Northern Ireland for buildings to be lit up in honour of the day.

Northern Ireland update 

In response to the priorities and underpinning themes outlined in the UK Rare Diseases Framework, the Northern Ireland (NI) Rare Diseases Action Plan is being advanced through the NI Rare Diseases Implementation Group (NIRDIG), which is chaired by NI’s chief scientific advisor, Professor Ian Young, and includes membership from across the Department of Health NI, the Public Health Agency’s R&D Division, clinical input from Health and Social Care (HSC) NI, the patient voice via the NI Rare Disease Partnership (NIRDP) and academia (educators and researchers from Queen’s University Belfast and Ulster University).

Much progress has been made in Year 2 of the Action Plan (2023/24), with the recently recruited clinical lead posts for adult and paediatric rare diseases taking forward work on care pathways, focusing on Health Service Commissioning service specifications and clinical pathways for conditions such as inherited metabolic disorders and inherited cardiac conditions, to ensure that provision is made for diagnosis, support and care, through to treatment.

A Rare Diseases Society has been established by Ulster University in collaboration with NIRDP, to raise awareness of rare diseases across its different schools. The society seeks to unite students, encourage advocacy and foster a deeper understanding of rare conditions prevalent in Northern Ireland and beyond.

In research, a new survey has been developed for patients and carers of people with a rare condition, which will gather experiences of and attitudes to participation in rare disease research in NI. Over 60 people have so far registered to participate in a Rare Disease Research Community of Interest, which will be used to identify the challenges experienced by professionals in recruiting people with a rare condition to research studies in NI, and how to address these barriers.

Wales update 

The Syndrome Without A Name (SWAN) clinic, the SWAN clinic, funded by the Welsh Government as part of the Rare Disease action plan, remains a model for national and international colleagues. Funding is extended until March 2024 for the 2-year pilot, aiming to shorten the diagnostic journey for rare disease patients. In the first 16 months, it assessed 105 referrals across Wales. 

Rare Disease care coordination is a key focus in Wales, with three coordinators (two clinical nurse specialists in the SWAN Clinic and one paediatric matron in the paediatric pilot) supporting patients and caregivers.

Collaboration between the Congenital Anomaly Register and Information Service (CARIS) team hosted by Public Health Wales and WRDIG leverages clinician and data analyst expertise to enhance rare disease registers and improve care pathways. This initiative is fostering stronger relationships between clinical specialists, WRDIG, and the development of rare disease champions across Wales.

Bio Industry Association (BIA)

I would also like to highlight the work of the Bio Industry Association (BIA).

In 2023, the BIA worked with PwC to conduct a comprehensive assessment of the progress made in improving access to treatments for rare disease in the UK, and the remaining challenges. 

The report, developed by the BIA’s Rare Disease Industry Group (RDIG), is based on extensive research and conversations with key stakeholders in the UK rare disease space, including NHS England, NICE, patient advocacy groups, clinicians and industry. It found that significant progress had been made but a number of challenges remain, which are limiting both the speed of access to new treatments and the number of patients able to receive them. 

For Rare Disease Day, the BIA will be continuing to build on the conversations generated through the report, including at an event in the UK Parliament with MPs and key stakeholders.

Editor’s note: Please also read Sheela’s companion article for Rare Disease Day 2024, in which she highlights some of the events taking place in the UK and around the world.

About Sheela

Sheela Upadhyaya is a consultant to the life sciences industry. She led the NICE Highly Specialised Technology Programme, the programme to evaluate medicines and technologies for rare and ultra-rare conditions for commissioning in the NHS. She was NICE’s Rare Disease and COVID-19 strategic adviser. She is chair for Together for Rare Diseases (Together4RD), an initiative to support collaboration between European Reference Networks (ERNs) and industry.

She is an adviser to the European Haemophilia Consortium Think Tank, and past chair for the ISPOR Rare Disease special interest group.

Sheela can be contacted at sheelaupadhyaya@gmail.com, or connect with her on LinkedIn.

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