SOLVING THE UNSOLVED RARE DISEASES: A EUROPEAN COLLABORATION
Last Reviewed 17/01/2018
By Jess Bateson
Genetic Alliance UK are delighted to be involved in the European research project SOLVE-RD, which has secured a major European grant of €15 million for research into rare diseases. This exciting project will see large-scale collaboration across Europe to improve the diagnosis of rare diseases.
Collectively rare diseases are common; approximately 1 in 17 people will be affected by a rare disease at some point in their lives. Throughout Europe, rare diseases affect millions of people. In recent years, it has become clear that the ‘eye’ of a doctor alone often will not suffice in the diagnosis of a rare disease.
The project aims to work with families affected by rare genetic conditions to deliver better diagnostic approaches, and to co-design the services that will deliver genomic information to families. The work will involve large-scale sharing of genome sequencing results across Europe. Combining existing genetic data of these patients greatly increases the chances of finding other patients with the same rare disease. New approaches are also needed to effectively diagnose more rare diseases and reduce the time it takes to get a diagnosis. The program’s researchers will use the latest genetic technology, and new technologies that measure proteins and cell activity, to provide extra information that they hope will ensure timely diagnoses.
This collective research into rare disease by SOLVE-RD will provide better diagnostics of rare diseases. The four core European reference networks (ERNs) involved are the first to add and share their patient data, thereby taking the lead in improving the diagnosis and treatment of the rare diseases they support. By continuing to increase the number of ERNs involved, this project will have a significant impact on our knowledge and clinical practice when it comes to diagnosing and treating rare diseases in Europe. Using shared knowledge and guidelines, a patient in Romania, for example, will receive the same diagnostics and treatment as a patient in Sweden or Spain.
What will the program mean for patients?
This is a hugely important project for patients, particularly for undiagnosed patients and their families. With improvement in our ability to diagnose rare genetic conditions, more undiagnosed patients and families will have answers about their condition and a faster diagnosis. Alison Metcalfe, Professor of Health Care Research in the Florence Nightingale Faculty of Nursing, Midwifery and Palliative Care at King’s College London and one of the lead investigators for SOLVE-RD said:
‘Receiving a diagnosis for a rare disease after an arduous process can have a significant psychological impact on a patient and their families. At King’s College London researchers (Professor Alison Metcalfe, Professor Glenn Robert and Dr Christine Patch) along with charities Genetic Alliance UK and EURORDIS, are collaborating with patients and families to identify and co-design the most effective and acceptable way to communicate the diagnosis in a way that promotes the patients’ and families’ understanding and acceptance of the findings and prevents or limits negative psychological impacts.’
Our support network SWAN UK (syndromes without a name) is the only dedicated network available for families of children and young adults with undiagnosed genetic conditions in the UK. Many of the undiagnosed community that we support have shared the challenges they face in the absence of a diagnosis. Families have explained how it is difficult not knowing how a condition is likely to progress, and how they are often referred to multiple doctors and clinicians across the UK. Many families wait years for a diagnosis and some may never get one. A Rare Disease UK report published in 2016 found that nearly half of the respondents who identified as undiagnosed had been waiting over five years for a diagnosis.
Who is involved in the SOLVE-RD research program?
The SOLVE-RD research program is a large mutli-stakeholer project which will be led by the University of Tübingen, the Radboud University Medical Center Nijmegen and the University of Leicester. Researchers from these leading universities will work with a core group of four European reference networks (ERNs), as well as involving additional ERN’s, patient programmes, existing Rare Disease networks such as Orphanet, and patient organisations. Genetic Alliance UK will be one of two patient organisations involved, acting on behalf of patients with rare and undiagnosed conditions.