Public invited to free Rare Disease evening lecture
Bridging health and social care is the theme for this year’s Rare Disease Day, and Cambridge University Hospitals is doing just that with their research.
With more than 1,000 research studies taking place at the hospital, the opportunities to involve patients and the public in research is greater than ever before.
That is why for the third year running the NIHR BioResource for Translational Research has joined forces with the Cambridge Rare Disease Network to run its popular evening lecture marking Rare Disease Day.
The free event – which this year takes place next Thursday 28 February at Cambridge University Hospitals, is an opportunity to meet researchers and find out more about the rare disease research taking place on the Cambridge Biomedical Campus.
Dr Nathalie Kingston, Director of NIHR BioResource for Translational Research said: “Rare Disease Day is a worldwide event that brings together millions of researchers, health professionals, those living with rare diseases and the patient groups supporting them.
“Our event brings together the public with some of the leading researchers into rare diseases, with the chance for people to ask questions and network.”
Living with an ultra-rare disease
Among the audience will be Allison, whose son has r(20), and has set up the support group where she met one girl with the same condition who experiences the daily struggles of living with a rare disease.
Ella was diagnosed with epilepsy in 2013, aged 5. Ella’s mum Kirstie said: “Initially the seizures could be controlled by drugs but then on a family holiday Ella was back to square one, having 40-50 seizures a day and needing lengthy hospital stays as well as endless visits to A&E.”
The number of seizures increased to 80 a day and Ella was eventually diagnosed with Ring Chromosome 20 Syndrome – or r(20) – a currently incurable ultra-rare disease affecting fewer than 150 people worldwide.
Diagnosis is complicated by the fact that paediatricians have to request a specialised chromosome (cytogenetic) test to confirm diagnosis, as the genetic test that is usually requested cannot detect ring-shaped chromosomes.
In 2014, Allison co-founded the patient support group Ring20 Research and Support UK with a two-fold mission: to make it easier for affected families to get in touch with each other and to raise funds for research. There are not yet any clinical trials for r(20) and patients are typically treated with a combination of medicines, which can cause a range of side effects.
The patient support group now supports more than 100 families and is collaborating with the Patient Led Research Hub (PLRH) based on the Cambridge Biomedical Campus on its first-ever research project, looking to see if Ketogenic Diet Therapy (KDT) is an effective treatment for r(20).
Allison said: “We hope our findings will provide a basis for future clinical trials into whether KDT could be a beneficial treatment for r(20) patients.
“At last we feel we are able to do something proactive for our patient families and we are really excited to be working on this project.”
Ella is now back at home and on the KDT diet but support is a continual struggle: “Ella now attends secondary school but only for about 1-2 hours a day. Every day is a struggle – getting dressed, having medicine, just doing the things that we all take for granted.
“We don’t know what the future holds for Ella, all I know is that she is one special little lady.”
The 2018 Rare Disease Evening Lecture takes place from 6-7.30pm, Thursday 28 February at the School of Clinical Medicine at Cambridge University Hospitals.
Image: Ella, who has been diagnosed with r(20).
The National Institute for Health Research (NIHR) is the nation's largest funder of health and care research. The NIHR:
- Funds, supports and delivers high quality research that benefits the NHS, public health and social care
- Engages and involves patients, carers and the public in order to improve the reach, quality and impact of research
- Attracts, trains and supports the best researchers to tackle the complex health and care challenges of the future
- Invests in world-class infrastructure and a skilled delivery workforce to translate discoveries into improved treatments and services
- Partners with other public funders, charities and industry to maximise the value of research to patients and the economy
The NIHR was established in 2006 to improve the health and wealth of the nation through research, and is funded by the Department of Health and Social Care. In addition to its national role, the NIHR commissions applied health research to benefit the poorest people in low- and middle-income countries, using Official Development Assistance funding.
About the NIHR BioResource for Translational Research
The BioResource is an NIHR initiative and has been established at thirteen Local Research Centres – Birmingham, Cambridge, Exeter, Leeds, Leicester, London – includes Barts Health, GStT, Maudsley, Moorfields and UCL, Manchester, Newcastle and Southampton.
The NIHR BioResource comprises of a panel of thousands of volunteers, both with and without health problems, who are willing to be approached to participate in research studies investigating the links between genes, the environment, health and disease. To find out more, please visit: www.bioresource.nihr.ac.uk
About Cambridge University Hospitals (CUH)
Cambridge University Hospitals (CUH) is one of the largest and best known hospitals in the country. As well as delivering care through Addenbrooke’s and the Rosie, it is also:
- a leading national centre for specialist treatment for rare or complex conditions
- a government-designated biomedical research centre
- one of only five academic health science centres in the UK
- a university teaching hospital with a worldwide reputation
- a partner in the development of the Cambridge Biomedical Campus
CUH’s vision is to be one of the best academic healthcare organisations in the world.
Patient Led Research Hub
The Patient Led Research Hub aims to provide academic expertise in all aspects of research design and conduct, free from a defined research agenda. This expertise is available to patient organisations to support patient-initiated and patient led research. The PLRH was established in 2015 by members of the Cambridge Clinical Trials Unit from the University of Cambridge and the Cambridge University Hospitals NHS Foundation Trust.
Cambridge University Hospitals is one of the largest and best known trusts in the country. As the local hospital for our community we deliver care through Addenbrooke’s and the Rosie hospitals.