About
The RARE-e-CONNECT platform is co-financed by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation to innovate by providing a secure, friendly and easy to use online environment for the development of national and international partnerships in Cyprus healthcare and patient rare disease community.
There are more than 6000 rare diseases known worldwide.
In Cyprus, some of those diseases appear once or very few times, while it is estimated that there are more than 60000 people with at least one rare disease living on the island.
RARE-e-CONNECT AIMS TO boost the development of national knowledge and expertise on rare or low-prevalence, complex diseases by:
- CREATING secure collaborative spaces for the exchange of specialised knowledge and clinical decision-making support within Cyprus healthcare and across borders.
- EMPOWERING patients to share their own unique perspectives about the day-to-day with the disease, listen and learn from others and contribute to the recognition and visibility of rare diseases at social, national and international level.
- DOCUMENTING web-based collaboration as a sustainable solution for the effective management of rare or low-prevalence, complex diseases and the development of national expertise.
Added value
The numbers of RD patients indicate the prevalence of long term conditions and imply the financial strain on healthcare systems. Rare Disorders have been largely left in the margin of mainstream healthcare across Europe. Small EU country Cyprus struggles to overcome the limitations of specialised national knowledge and expertise on rare or low-prevalence complex diseases and the absence of effective structures for coordinated collaborative work and knowledge exchange with specialised centres in Europe and other countries.
RARE-e-CONNECT research will explore the potential of the proposed technology to promote expert knowledge dissemination, contribute to the reduction of inequalities in accessing facilities and time needed for diagnosis, and in the longer run waive the need for regular patient travelling abroad for health evaluations, contributing thus to the reduction of the underlying financial burden.
Publications
Rare diseases are a particular group of complex, chronic and progressive conditions. They are also heterogeneous conditions that can affect practically every system and organ of the body, requiring coordinated multidisciplinary care.
According to the definition established by the European Union, the clinical conditions that affect 5 or less in every 10,000 citizens are considered rare. There are more than 7000 different rare diseases or syndromes, currently recorded in the Orphanet portal for Rare Diseases and Orphan Drugs (Weinreich et al., 2008).
The majority of rare diseases are genetic or even hereditary, while many may be due to a combination with environmental factors that take place during pregnancy or shortly after birth. Often, and especially if they are not timely diagnosed to pursue treatment, rare diseases can cause irreversible, visible or invisible, disabilities and even premature death.
People diagnosed with a rare disease face a deterioration in their quality of life. They may be(come) unable to learn and do professional work, which has destructive consequences for their financial situation and everyday living.
Many authors and scientific groups have stressed how rare diseases, affecting 30 million people in Europe, 25 million people in the USA and 300 million people worldwide, are and should be regarded as a public health priority in need of a comprehensive plan of action to accommodate their devastating social and financial consequences on the person, the family, the society and the State itself (Valdez et al., 2016; Nguengang et al., 2019: Eurordis, 2022).
Challenges in rare disease diagnosis and therapies
Given the rarity and variability of rare diseases, clinical expertise in diagnosis and management is often limited and scattered across countries with large populations, which have been able to accumulate expertise in rare disease diagnosis and management over the years, based on large cohorts of patients.
At the same time, the symptoms of a rare disease may resemble those of common conditions only to further complicate or delay diagnosis.
Rare disease therapies are known as “orphan” therapies or “orphan” drugs. It is estimated that at least one approved treatment is available for only 5% or fewer of rare diseases. The cost of these therapies is extremely high for patients who often find themselves in unbearable financial strains (Willmer, 2022).
References
Eurordis (2022) Another Step Closer: Why Europe should keep striving toward an Action Plan for Rare
Diseases. Available at https://www.eurordis.org/europe-striving-toward-an-action-plan-for-rarediseases/.
Nguengang Wakap, S., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., ... & Rath, A. (2020). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics, 28(2), 165-173. Available at https://www.nature.com/articles/s41431-019-0508-0
Weinreich SS, Mangon R, Sikkens JJ, Teeuw ME, Cornel MC. [Orphanet: a European database for rare diseases]. Nederlands Tijdschrift Voor Geneeskunde. 2008 Mar;152(9):518-519. PMID: 18389888.
Valdez, R., Ouyang, L., & Bolen, J. (2016). Public Health and Rare Diseases: Oxymoron No More. Preventing chronic disease, 13, E05. https://doi.org/10.5888/pcd13.150491
Co-constructing effective collective intelligence networks in rare diseases: a mixed method approach to identify the parameters that matter for patients, professionals and policy-makers, piloted in Cyprus (2023). Available at https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02672-y
E- Handbook for Telecollaboration in Healthcare: Findings and Lessons Learned in Rare Diseases (2022)
Τhis e-Handbook is a deliverable for the RARE-e-CONNECT project (POST-DOC/0916/0222).
Part 1 introduces Rare Diseases as a particular field of public health, discussing the challenges and the ways networks may be used to provide solutions.
Part 2 describes the implementation of the RARE-e-CONNECT project, the achievements and the lessons learned from each step of the experience. Overall, this handbook provides research findings and actionable strategies for successfully integrating telecollaboration in healthcare, driving knowledge-sourcing and positive change in
rare diseases and elsewhere.
Available here
The Team
RARE-e-CONNECT for Healthcare Professionals and People living with Rare Diseases:
A radically new Web 2.0 technology to promote knowledge sharing and decision-making support
for the diagnosis and multidisciplinary management of rare diseases in Cyprus.
The Project POST-DOC/0916/0222 is co-financed by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation. The Host Organisation is Cyprus Alliance for Rare Disorders.