| 27 February 2018

Valuing Rare Disease Research


Retina International Celebrates Rare Disease Day 2018!

The promotion and development of research into rare and inherited forms of retinal dystrophy (IRD) is a fundamental objective of the Retina International community. On February 28th 2018 we join the multistakeholder global community to celebrate Rare Disease Day and call for structured collaboration among stakeholders that will lead to sustained funding, promotion and protection of rare disease research.

Rare disease research represents a broad range of scientific investigations to establish knowledge on rare diseases. Basic rare disease research involves the biochemical study of underlying pathophysiological mechanisms and their genetic and molecular characterisation. Clinical research focuses on the development of diagnostic tools and therapeutic solutions while translational research accelerates the transfer of knowledge from basic “bench-side” research into clinical “bedside” applications.

Equally important, in this multidisciplinary field of research, are studies on the social consequences of disease, health economics, communication and culture as well as epidemiological studies and research into the natural history of a disease. These studies help develop improved standards of care, treatment and a better quality of life for people living with rare disease. Specific and careful allocation of budgets and coordination of activities at national, regional and international levels are imperative for accelerating the journey towards the ultimate goal - effective treatments for unmet need.

Why is Research so Important for those affected by Rare Diseases?

Members of Retina International agree with their peers in other areas of rare disease that the greatest barrier to prevention, diagnosis and treatment is insufficient knowledge. Lack of investment therefore leads to delays in the development of fundamental scientific progress resulting in under-diagnosis, misdiagnosis and delays in diagnosis.

The key to developing this knowledge in the retina space is in supporting and promoting all elements of research into Inherited Retinal Dystrophy -IRD. Investment in IRD research will improve the identification, understanding and development of therapeutic options for these conditions.

Due to their low individual prevalence, complexity and requirement for a multidisciplinary approach, the field of rare disease research is one in which the benefits of specific and targeted coordination and collaboration are most obvious and pressing. Traditional funding mechanisms including “normal” market conditions, patient organisation fundraising efforts, and public funds are not adapted to the reality of rare disease research requirements, which include concerted efforts at both the national and international levels through the development of national plans and strategies.

Patients as partners

Retina International believes that patients should be partners in research not only as subjects, but as advocates for fundraising and key stakeholders in the drafting of guidelines and policies, and should always be consulted in the drafting and evaluation of national research policy in the context of strategic plans.

Find out more about Rare Disease Day  https://www.rarediseaseday.org/



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