Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse – but united in purpose.
The Rare Diseases BioResource at the NIHR BioResource has been busy since last year’s Rare Disease Day, with the opening of three new projects focusing on different rare diseases: Rare Autoimmune Neurological Disease, Cystic Fibrosis and Cystinosis. A fourth project focusing on patients with Primary Ciliary Dyskinesia is on the horizon and due to open in the coming months.
To enable this progress, 56 teams from 23 NHS Trusts in England have been set up to recruit to one or more projects, with approximately 1,200 individuals from around the country recruited to the Rare Diseases BioResource since Rare Disease Day last year. An incredible achievement when so many face-to-face hospital appointments have been on hold during the coronavirus pandemic.
To mark Rare Disease Day 2022, the Department of Health & Social Care (DHSC) has this morning published its first Rare Diseases Action Plan for England, developed with the National Health Service (NHS) and the rare disease community.
Announced by Health & Social Care Secretary Sajid Javid, the Action Plan aims to help the 3.5 million people in the UK living with a rare disease by speeding up diagnosis and developing new treatments and includes 16 commitments to further improve care.
The NIHR BioResource are delighted to receive £40 million of funding via the Action Plan to further our work in characterising and understanding rare diseases. We have facilitated some key research discoveries for rare diseases, including for the Next Generation Children study, which revealed that whole-genome sequencing (WGS) analysis has the potential to be a first-line diagnostic tool for a subset of intensively ill children.
To date, the NIHR BioResource has recruited over 21,000 patients and family members across more than 60 rare disease areas.
Two research studies on rare diseases currently supported by the NIHR BioResource include:
INTREPID (Integrative Translational Research in Primary Immunodeficiency)
Primary Immunodeficiency (PID) is a large group of genetic disorders that affect more than 1% of the UK population and can underlie susceptibility to debilitating infection, auto-immune disease and some cancers. It can have devastating impact on the lives of patients and their families. However, PID is often unrecognised because of variations in the severity and types of symptoms that can delay diagnosis and the implementation of appropriate care.
The INTREPID study seeks to unravel the biological mechanisms that control our immune cells and can result in failure of our immune systems to operate normally. Ultimately this will inform diagnosis and enable the appropriate use of treatments to transform the lives of this significant patient population. Findings may also have impact for other areas of medicine such as autoimmunity and cancer, where immune cells play a part in the disease process.
Emily Li, Project Manager for INTREPID said:
“The INTREPID project works very closely with the NIHR BioResource to achieve the INTREPID project aims in a couple of ways. The project carries out genetic analysis on patients with primary immunodeficiency who have been recruited to the Rare Diseases BioResource.
“From this analysis of new and previously recruited participants, we have identified groups of participants that we would like to investigate further. The NIHR BioResource are inviting these participants to take part in another study that will allow us to look at their blood in detail and hopefully provide insight into some of the causes and mechanisms of primary immunodeficiency.”
PEREGRIN* (Parental Experiences of Rapid Early Genomic Results in Infancy)
The PEREGRIN* study is a follow-up study with mothers and fathers from the Next Generation Children (NGC) project who underwent whole genome sequencing as a family trio, to find a cause for their infant's or child's symptoms while they were admitted to the Neonatal or Paediatric Intensive Care Units (NICU/PICU), or undergoing diagnostic investigations in the hospital specialist neurology or genetics clinics.
Genomic tests like the one that the NGC families had are now being introduced into the National Health Service (NHS). As many health conditions are caused by changes in our genes, families who have critically unwell babies or young children with genetic conditions can benefit from genomic testing.
Helen Dolling, study co-ordinator for PEREGRIN* said:
“My role as a researcher is to speak to parents about their experiences and thoughts about their family's genomic testing and to summarise their stories in a coherent and meaningful way for the clinicians, researchers, and the wider public - with the hope to inform the processes around genomic testing in rare diseases for future families.
“NGC families have contributed to our understanding of the genomic science and how to implement these new tests into clinical care. Their personal stories will help us to understand the impact of this technology and test results from their unique family perspectives in their own words.”
Find out more about this year’s event and if you have a rare disease, how you can get involved by sharing your story.
At the NIHR BioResource, we are able to recruit participants to our Rare Diseases BioResource only through a referral by a clinician. However, should you need to contact the Rare Diseases BioResource, we can be reached via rarediseases@bioresource.nihr.ac.uk
If you do not have a rare disease, you can still contribute to the NIHR BioResource. Learn about our Healthy populations cohort and how to join the NIHR BioResource as a volunteer participant.
If you are a researcher looking for more information on the rare diseases we currently support research into, or you’re with a patient group and want to discuss ways the NIHR BioResource can support your efforts, please visit our website or contact us on rarediseases@bioresource.nihr.ac.uk