Rare disease: final progress report

The Scottish Implementation Plan, It’s Not Rare to Have a Rare Disease was first published in 2014 following the publication of the UK Strategy for Rare Diseases Strategy in November 2013. This final report evaluates Scotland’s progress against each of those 51 commitments set out in the 2013 strategy.

5. The Role of Research

Commitments 31-51

Research plays a vital part in how our healthcare is delivered, it is at the centre of all we do. For rare disease patients research can fulfil unanswered questions that may support a diagnosis, cause, symptoms and treatment for many rare diseases.

Continued investment in research is paramount in order for rare disease patients to receive the benefits. Many research projects work across organisations and we see this in the collaboration between Scottish Genomics Partnership and Genomics England. With the prevalence of rare disease being significantly lower than other more common conditions, cross collaboration is even more pertinent.

Within the Scottish Government, the Chief Scientist Office (CSO) has responsibility for the funding of clinical research and we continue to work closely with them to ensure the availability of funding to rare disease researchers. Below we have outlined some key areas of progress.

5.1 A Bridge to a Scottish Genomics Strategy

In recent years we have seen great progress made in delivering genomics medicine in Scotland, particularly through the implementation of ‘The Bridge to a Scottish Strategy for Genomics’.

The Scottish Government’s Programme for Government in 2018/19 made a commitment to continue the development of genomic medicine through the enhancement of NHS Scotland genetic capabilities for the diagnosis of rare diseases. The work built on current practice and experience gained in genomic technologies; including the continued development of genomic tests, ongoing collaboration with Genomics England in the 100,000 Genomes Project as well as improved data analysis, sharing and storage.

Advancement of the strategy is driven by our partners in NHS Services Scotland National Services Division who have commissioning responsibility for the Scottish Genetic Laboratory Consortium (SGLC). Through this arrangement the four regional genetics centres in Aberdeen, Dundee, Edinburgh and Glasgow work together to provide genetic testing for a wide range of rare diseases, efficiently and equitably across the entire geography of Scotland.

The allocation of £4.2 million over a 2-year period by the Scottish Government supported the transition of genomic testing for inherited rare disease from the research setting into regular genetic testing services provided by the NHS in Scotland. The SGLC made significant progress in delivering the objectives set out for this funding which not only contribute to the overarching Role of Research commitments but deliver against the Diagnosis and Early Intervention commitments too.

Key achievements set out in the last report (Bridge Report 3, June 2020) include:

  • The Clinical Exome Sequencing (CES) has been embedded across all four laboratory sites in Scotland. Demand for the service has exceeded expectations with 289 samples received and a diagnostic yield of 22% of reported cases at the time of writing.
  • Whole Exome Sequencing (WES) Trio Analysis has been very well received by the clinical community with 158 Trios referred to the service. The service has continued to encounter challenges that have had a limiting effect in terms of sample numbers however this had not detracted from implementation of an effective diagnostic service with a diagnostic yield of 26%.
  • The Scottish Genomes Partnership sequenced 999 genomes from 394 families and all results have now been returned. Current data indicates an average 17.4% diagnostic yield, varying from 26% in families with intellectual disability to around 5% in families with cardiovascular disorders. Diagnostic yields are in line with those currently reported from the 100,000 Genomes Project and may yet increase with further analysis.

Further information on the ‘Genomics for Rare Disease in NHS Scotland: The bridge to a Scottish Strategy for Genomics’ and the ‘Bridge Reports’ are available on the SGLC website.

A Scottish family share their experience of the benefits of a targeted analysis of a clinical exome test funded by the Scottish Government Bridge project:

“We found out from a scan that our daughter was to be born with clubfeet. She has needed multiple casts and operations to bring her feet into the position for walking and running. When she was two, we asked for further tests as we suspected her feet were a symptom of something more. Skeletal scans showed that bone growth in her arms, hips, thighs, knees and feet was abnormal, but could not pinpoint the underlying cause.

The team at Aberdeen Sick Children’s hospital were brilliant and our surgeon referred us to clinical geneticist Dr Zosia Miedzybrodzka for blood tests. These showed that all three of us have a faulty SLC26A gene. This can cause a spectrum of physical problems, including failure to grow and joint pain. Through genetic counselling, we learned about our daughter’s future, the possibility of our son being a carrier and the implications for his future, as well as the options for us for any future pregnancies.

Most important of all, identification of the faulty gene gives us the opportunity to investigate already available, or emerging, possible treatments. A researcher in Italy has shown that mice without SLC26A grow better on an over-the-counter supplement called NAC. It’s cheap, readily available and is licensed to treat another childhood onset condition, so a trial of treatment has the potential to reverse the damage to our daughter’s bones.

Now, because of the Scottish Genomic programme and in particular getting the right genetic test, we have the opportunity to enhance our daughter’s growth, and maybe reduce the development of painful joints. We are so grateful for this opportunity to share our experience so that others may also benefit.”


The Scottish Health Research Register is a NHS Research Scotland initiative that has been established to allow people aged 11 and over and resident in Scotland to register their interest in participating in research. Participants agree to allow SHARE to use their anonymised NHS records to check whether they might be suitable for health research studies. By taking part in ongoing medical research rare disease patients can play a part in helping to develop new treatments and developing better healthcare in Scotland. As of 01/10/20 – 282,308 people have registered for SHARE.

5.3 Co-funding of Research

The Scottish Government, through the Chief Scientist Office (CSO), has established and maintained an active programme of co-funding research with third sector organisations, including research in rare diseases. Currently, CSO are working with medical research charity LifeArc to jointly fund early stage translational research in rare diseases. A joint fund of £300,000 is available to fund up to three Scottish-led research projects – applications submitted to the call are currently under review with funding decisions pending.

5.4 The Scottish Genetics Speciality Group

Established as part of the NHS Research Scotland network infrastructure

The Scottish Genetics Speciality Group supports the delivery and promotion of clinical research studies in a wide range of areas, including:

  • Rare diseases.
  • Common disorders such as familial cancer.
  • Genetic approaches to their treatment and prevention.

This leads to more opportunities for people with rare genetic diseases to participate in research, which in turn leads to improved care and the development of new treatments.

NHS Research Scotland is committed to actively involving patients, those who care for them and the public in all aspects of the research process. This includes shaping future research activity and there are currently supporting more than 30 Genetics studies, about a third of which are led from Scotland.

NHS Research Scotland are also working closely with The Chief Scientist Office (CSO) of Scottish Government, and Health Board R&D Offices are working closely, and in collaboration with equivalents across the UK nations, to enable and deliver research into COVID-19.

5.5 Research and Rare Conditions Conference

In March 2020, NHS Research Scotland and Genetic Alliance UK held a collaborative ‘Research and Rare Conditions Conference’ in Edinburgh. The Conference brought together health professionals, researchers and patient organisations to showcase current developments and explore the challenges and opportunities faced when designing and delivering research for rare conditions.

A series of follow-up consultation workshops with patient groups was envisaged for summer 2020, however were postponed due to COVID-19.

One highly successful example of collaborative research funding directly impacting patients is evident in the field of motor neurone disease (MND).

MND is a debilitating condition that causes muscle weakness and paralysis, difficulty speaking, swallowing and breathing. It is life-shortening - affecting approximately 400 people in Scotland at any one time – with no effective treatment or cure. In 2015 joint funding from the CSO with MND Scotland and the MND Association enabled the recruitment of Dr Danielle Leighton, an early-career neurologist, as a clinical fellow at the University of Edinburgh. Dr Leighton was also at the heart of the Euan MacDonald Centre for MND Research, a philanthropically funded network that unites all MND researchers and health professionals across Scotland.

Dr Leighton’s project was to investigate the clinical condition and genetic make-up of people living with MND in Scotland. During her three-year fellowship, she was able to make important insights on the genetics of MND in Scotland, which will have important implications for ‘personalised medicine’ drug treatments in the future, and the changing pattern of MND incidence in Scotland. This work empowers researchers, clinicians, people with MND and policy-makers to better understand the condition and future-proof optimal and equitable care provision.

Prof Siddharthan Chandran, Consultant Neurologist and MacDonald Professor of Neurology, University of Edinburgh noted that:

“This remarkable pooling of academic, clinical and monetary resources, and working closely with the patients themselves, has made a real impact on MND research and care in Scotland that is now seen as a shining example worldwide and will have lasting significance.”


Email: carol-anne.redpath@gov.scot

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