Hot on the heels of Rare Disease Day 2023 and publication of the Government's Rare Disease Action Plan, we spoke to Vicky Hills, Rare Diseases Volunteer Recruitment Manager, to explain her team's work that is recognised by the government as being a key pillar in the efforts to support the Rare Disease community through health research and improving patient care.
Hi Vicky, can you tell us about the role of the Rare Diseases team at the BioResource?
The NIHR BioResource is made up of a panel of volunteers who have been recruited into one of several different cohorts, such as General Population, Young People, COVID or one of the Common Diseases we recruit for, including Mental Health.
Within the 200,000+ volunteers at the BioResource, more than 22,000 are specifically part of the Rare Disease BioResource, be that patients with a rare disease or their relatives.
The Rare Diseases BioResource has volunteers from over 60 disease areas including immunology, neuroscience, haematology, rheumatology, cardiovascular disease, and many more.
In the last 12 months, more than 2,500 volunteers have been recruited to the Rare Diseases BioResource from over 50 NHS Sites, and a network of BioResource Centres across the country.
As part of their participation, volunteers agree to provide a biological sample (either blood or saliva), consent to the genetic analysis of their sample, allow us access to their medical records, and consent to being invited to participate in research studies if the participant matches the criteria set by a researcher (something we call Stage 2 at the BioResource).
The recruiting medical team also complete a Clinical Report Form which provides us with information about the volunteer, their medical history and rare disease.
The Rare Diseases team coordinate the recruitment, collection and receipt of the above-mentioned samples and data, and provide support to all open and recruiting sites, as well as support for potential volunteers enquiring about joining the BioResource.
Can you tell us a bit about rare diseases as a whole and the importance of research?
While rare diseases are by nature individually rare you might be surprised to hear that they are collectively common, one in 17 people will develop a rare disease in their lifetime, 30 million people in Europe alone.
The rare disease research community are striving to improve the availability and speed of genetic diagnosis, the efficacy of treatment and improved data sharing across organisations and the NHS.
Research into rare diseases increases the chances of genetic diagnosis, and identifies similarities in disease, enabling existing treatment regimens to be considered. Research brings attention and funding to the area as well as potentially discovering novel treatments that change people's lives.
Research is not just important but essential to advancing the understanding and treatment of rare diseases.
What does a regular day look like for the team?
Day-to-day activities are centred around the receipt of CRFs (Clinical Report Forms) and data from our sites across England. The team receive, validates and enters this data daily.
We also ensure that all sites have sufficient resources and materials to recruit and consent volunteers, such as blood bottles and saliva sample packs.
The Study Coordinators and Senior Study Coordinators also support the sites with queries, the opening of new projects and additional sites, and deliver Initiation and Training sessions with the teams across England.
What other teams do you work closely with at the BioResource?
The Rare Disease team have very regular contact with the external sites recruiting volunteers to the BioResource, and the BioResource Centres across England.
A close working relationship with the Samples team is essential, they work closely with us to ensure samples received are correctly labelled and we can action any missing or incorrect samples quickly.
Our work directly feeds into the Stage 2 team, who coordinate the recall of participants to take part in research. We regularly discuss the feasibility of potential recall studies and the availability of volunteers in different disease areas.
We also work alongside the Rare Diseases RNA Phenotyping project team on a large project to recall Rare Disease patients for further samples.
The RD team would also be lost without Governance and Ethics who help us navigate study delivery and ethics, always providing invaluable support.
What is the most rewarding thing about working in your team?
The most rewarding part is working in a supportive and interesting team, who are hardworking and receptive to learning new things.
It is rewarding to see the team contributing and improving the Rare Disease BioResource every day!
What three words best describe the Rare Disease Team? What’s the most challenging part of your role?
I would describe the Rare Disease team as efficient, friendly, and busy!
They are a fantastic team and bring invaluable knowledge and experience to day-to-day interactions both within the team and externally for the many recruiting sites across England.
The most challenging part of my role and the team is the volume of disease areas and recruiting sites that are managed by the team. It requires a very organised approach and diligent attention to detail.
What key areas and projects are you working on at the moment?
We are excited to be working closely with Patient Representative Charities to open recruitment sites in the Devolved Nations.
With charities such as Cystic Fibrosis Trust and Ring20 Research & Support UK we are using our existing infrastructure and ethics to increase and support recruitment and research into these areas.
The RNA Phenotyping project aims to recall 1,000 patients from the existing volunteers in the Rare Disease BioResource. These patients are donating further biological samples to allow for RNA sequencing which we hope will lead to advances in treatment, understanding and genetic diagnosis.
This year the team are focusing on how we can increase and raise awareness of the recall aspect of the Rare Disease BioResource.
Volunteers have been successfully added for over 10 years, it is an amazing resource for researchers and clinicians.
Along with the Stage 2 Recall team, we will be attending conferences and events to shout about this amazing resource and hope to see more recall studies in rare diseases.
How far has technology advanced to help with studying and identifying the causes of rare diseases?
(We spoke to our Head of Samples, Dr. Kathy Stirrups for her thoughts on this!)
Genetic technologies have been evolving rapidly over the past few decades. In 1953 the DNA double helix structure was discovered, it took until 1977 to develop the first sequencing technology, then until 2003 for the international declaration of the first complete human genome sequence.
Now we live in an era when genomes can be sequenced in days and for less than $1,000, this means the technology can be embedded in healthcare provision and personalised genomics is becoming a reality.
In my own career path, I have gone from using radioactive sequencing technologies to be able to sequence just a few hundred bases at a time to working on big projects with multi-disciplinary teams of experts generating hundreds of entire human genomes per week. It is fascinating to think about what the next couple of decades will bring.
For Rare Disease patients, it means a greater chance of receiving a genetic diagnosis, this depends on how much is known about that disease.
There are 3 billion bases in a human genome and despite the accelerated research opportunities provided by new genetic technologies and reduced costs and shorter experiment times there is still a lot to learn, there are millions of years of evolution and genomic optimisation to be deciphered.
However, this revolution in technologies has also led to an increase in scientific opportunities, cooperation and training and so there will be many more advances to come.
Understanding the underlying problem can then lead to new treatments, sometimes just knowing a new biological pathway is involved in a disease can suggest treatments used in other conditions that may be helpful for that rare disease.
Now with CRISPR gene editing technology and viral vectors, it is possible to modify very specific sections of the genome in certain cells so treatments are now possible that can modify the patients' own cells to generate the corrected proteins.
Overall having a genetic diagnosis can end some of the uncertainties of the many years of investigations rare disease patients face, it can provide some more information on causes, prognosis, treatments, screening for other family members, and links to specific support groups.
It also allows researchers to focus on new biological pathways which in time will lead to new treatments and new more rapid diagnostic tests.
What is the future of Rare Disease research?
I have been excited to read recently about a young girl who had her Rare Disease cured by gene therapy.
Gene therapy is a type of medical treatment that involves adding, removing, or changing a person’s genetic material—also known as their DNA.
This is an amazing advance in medical treatment which has been possible because of the years of research analysis of individuals' DNA by organisations such as the NIHR BioResource.
The BioResource has an invaluable source of data and genetic information that when recalled and used for further research can and will have an impact on future treatments available to Rare Disease patients.
A huge thank you to Vicky Hills and the team for this valuable insight into the workings of the Rare Disease Team!
Researchers can find out more about using the NIHR BioResource or make an enquiry by contacting us via nbr@bioresource.nihr.ac.uk.
Rare disease patients can only join the BioResource via their clinician. To find out more about whether you are eligible, please contact rarediseases@bioresource.nihr.ac.uk
Anyone can join the general population BioResource, whether you have a health condition or not. Find out more about how to take part!
If you are interested in finding out more about our work with rare diseases or want to read more, check out the articles below, including an interview with siblings Chloe and Tom, both living with the rare condition Leber Hereditary Optic Neuropathy (LHON), and our collaborative project with patient-group Ring20 Research and Support UK and Illumina Inc. to understand Ring Chromosome 20 Syndrome.
Both stories feature in the second Rare Disease Action Plan for England, published by the Department for Health and Social Care on 28th February, Rare Disease Day 2023.
