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Research Brings Hope to Rare Disease


What is Rare Disease?

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

One rare disease may affect only a handful of patients in the EU (European Union), and another may touch as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases.

  • 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
  • 50% of rare diseases affect children.

Characteristics of Rare Diseases

Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.

Common Problems Faced 

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.

Due to the rarity and diversity of rare diseases, research needs to be international to ensure that experts, researchers and clinicians are connected, that clinical trials are multinational and that patients can benefit from the pooling of resources across borders. Initiatives such as the European Reference Networks (networks of centres of expertise and healthcare providers that facilitate cross-border research and healthcare), the International Rare Disease Research Consortium and the EU Framework Programme for Research and Innovation Horizon 2020 support international, connected research.

How can things change?

Although rare disease patients and their families face many challenges, enormous progress is being made every day.

The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most "recurrent" ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

Rare Disease Day is a great example of how progress continues to be made, with events being held worldwide each year. Beginning in 2008, when events took place in just 18 countries, Rare Disease Day has taken place every year since, with events being held in 84 countries in 2016.

However, the road ahead is long with much progress to be made.

 


Rare Disease Day 2017 is therefore an opportunity to call upon researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.

Rare disease patients and families, patient organisations, politicians, carers, medical professionals, researchers and industry will come together to raise awareness of rare diseases through thousands of events all over the world.

Rare Disease Day 2017 is also an opportunity to recognise the crucial role that patients play in research.

Patient involvement in research has resulted in more research, which is better targeted to the needs of patients. Patients no longer solely reap the benefits of research; they are empowered and valued partners from the beginning to the end of the research process. Patients:

  • Advocate for research on a specific disease or across diseases. They know where research is needed and work to influence research bodies and companies to prioritise these areas in their research.
  • Fund research. Individuals or patient organisations such as the AFM-Téléthon often raise money for clinical trials or research projects, on their own or in partnership with private funding initiatives.
  • Partner in research projects and are included in the governance of research.
  • Participate as subjects in clinical trials and also in the design of clinical trials. They therefore help to ensure that the development of a medicine takes into account their real needs, so that the patient perspective is not overlooked.

More information on Rare Disease Research:

The US Orphan Drug Act (1983) and the EU Regulation on orphan medicinal products (2000) both stimulated rare disease research. This is the result of determined advocacy efforts from the rare disease community to ensure that policy makers, companies and researchers understand the benefits of rare disease research.

In EU programmes alone, €620 million were assigned to rare disease research between 2007 and 2013. Money continues to be allocated to rare disease research through the EU with €200 million assigned between 2014 and 2015, making rare disease research continuously attractive to scientists. In parallel, EU Member States have grown their research budgets.

Due to the rarity and diversity of rare diseases, research needs to be international to ensure that experts, researchers and clinicians are connected, that clinical trials are multinational and that patients can benefit from the pooling of resources across borders. Initiatives such as the European Reference Networks (networks of centres of expertise and healthcare providers that facilitate cross-border research and healthcare), the International Rare Disease Research Consortium and the EU Framework Programme for Research and Innovation Horizon 2020 support international, connected research.

Rare disease research reduces costs for healthcare systems. As a result of research, a rare disease patient who is diagnosed or properly treated no longer needs irrelevant tests, ineffective treatment or hospital visits. In addition, research on specific rare diseases often shines a light on more prevalent diseases. Pioneering approaches in rare disease research often benefit the much wider public affected by more common diseases.

There are various types of research and frameworks that are important to the rare disease community, including:

  • Infrastructures such as registries (databases of patients with their clinical and genetic information) and biobanks (catalogues of human biological samples), which researchers need to do their work. Initiatives such as RD-Connect connect databases, registries, biobanks and clinical bioinformatics for rare disease research.
  • At present only few European countries fund research on rare diseases through specific dedicated programmes. The E-Rare consortium links responsible funding organisations and ministries that combine scarce resources for national rare disease research and enables the participation of many researchers in transnational projects. 
  • Fundamental research to identify the cause and mechanisms of rare diseases.
  • Translational research, which focuses on using the conclusions of basic research to develop therapeutics for patients living with a rare disease.
  • Clinical research, when medicinal products are tested in humans through clinical trials.
  • Not only is clinical research important, research into quality of life, working conditions, social needs, integration at school, multidisciplinary education of social service providers is key and supported through projects such as INNOVCare.  

Rare disease research changes the lives of the millions of people living with a rare disease across the world and their families.



 

Kathleen Fusco
Written by Kathleen Fusco