On Rare Diseases Day 2020 Retina International Says – Rare Disease Research is Relevant!

 Rare Disease Day takes place each year on the last day of February –  in 2020 we celebrate it on the rarest of days, Saturday February 29th!

 This is a global awareness campaign developed by patients in 2008 for everyone – people living with a rare disease, their families and those who care for them. It is also a time for policy makers, public authorities, researchers, industry representatives, health professionals and the general public to show their support for this community, who are often the most marginalised and vulnerable in society, yet with 300,000 million people affected globally, a community that represents the largest health constituency. If all of those affected by a Rare Disease stood together they would be equal in number to the third largest country in the world!

Rare Disease Research is Relevant!

The rare disease community is connected across borders and diseases to raise awareness and advocate for equity.

Retina International and its 43 member organisations across the globe understand the complexity of rare diseases. They understand the challenge more than most as Inherited Retinal Diseases (IRDs) are among the most complex genetic disorders with over 260 genes identified to date. The complexity of these conditions underlines the need to support research from concept through to therapy delivery. As a community that is an exemplar of innovation, we are excited by the prospect of treatments, however there is much more investment needed in retinal research in order to go some way towards providing care and treatments to all of our community.

We must support the need for basic research, with only 60% of the genes responsible for IRDs identified, the need for investment in this space is clear.

 As a community we must also advocate for the infrastructures to support our overarching objective – the development of treatments and cures to leave no one behind. We urgently need better access to genetic testing services, this not only empowers patients through knowledge, but helps to advance the research process. The development of data sharing models are essential and will need the input of patients in collaboration with researcher’s, medical professionals and policy makers. We are entering a new space in patient engagement in research, we are not only engaged, we are involved and we are participating. Patients are fundamental to the discussion on the future of research and have much to contribute. It is only through structured collaborations with all stakeholders that we can to drive the discoveries that will lead to innovative treatments for our unmet needs. This must be supported by governments.

People living with IRDs have supported Retina International and its members in rolling out a cost of illness model developed by Deloitte Access Economics that helped our community to establish the socioeconomic burden of IRDs. The IRD COUNTs study was piloted in the UK and Republic of Ireland and identified the cost of these conditions to the individuals affected, to their families and to the state. We are now working with our members in the United States and Canada, using the same model to establish critical data in that region.

The data generated by research studies such as these allows our community to develop evidence based advocacy campaigns where we can demonstrate to our legislators and policy makers the real burden of IRDs to this community. In so doing we can highlight the need for investment in retinal research and why it should be a priority with the facts, not just anecdotes. On Rare Disease Day 2020 Retina International and its members will support and participate in supranational and local events all over the world. We will call for support of research into rare disease, we will highlight the benefits to those affected and to society at large.

 Rare Disease Research is Relevant.

Retina International wishes all our in our community a wonderful Rare Disease Day 2020! So if you are wearing your stripes or raising your hands. Enjoy the celebrations!

 For further information on the cost of illness model log onto: http://www.retina-international.org/ird-counts-study-results-released-today-at-euretina19/


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