The Institut de la Màcula team joins the call by La Marató de TV3 to spotlight rare diseases
La Marató de TV3, Spain’s top telethon and the one that raises the most funds, has turned its attention to rare diseases this year. The team from the Institut de la Màcula has added its voice to the programme’s call by placing special emphasis on those diseases linked to vision
Now numbering some 30 editions, La Marató de TV3 is an annual television event that every year spotlights a different disease or group of diseases in order to raise the highest possible amount of money to donate to medical research. This year, the programme is dedicated to rare diseases.
The Institut de la Màcula team has joined the call to draw attention to rare diseases by using the hashtag #AmbTuGuanyarem (#WithYouWeWillWin). In the photograph, each team member holds a sign bearing the name of one rare disease from the total of over 7,000 conditions.
A rare disease (also called an orphan disease) is one that affects a small number of people: in Europe it is considered as such when it is suffered by 1 in 2,000 people. Several of these conditions are related to vision such as Stargardt's disease, Choroideraemia, Retinitis Pigmentosa, Usher Syndrome and Gyrate atrophy.
Unfortunately, we lack the treatments for some of these pathologies, which in addition have no cure. This is true, for example, of Stargardt's disease and Retinitis Pigmentosa. However, the research is highly intensive and encouraging. At the Institut de la Màcula, in close collaboration with the Barcelona Macula Foundation, we conduct research to bring this situation to an end and discover therapies that modify the evolution of these diseases and alleviate their symptoms. Although they affect only relatively few people, these pathologies carry consequences that may leave sufferers without their eyesight.
Beyond this simple gesture, our contribution to the publicising of rare diseases is to perform extensive informative work with regard to this group of pathologies. In addition, we conduct research to find new treatments that assist in slowing their progress or preventing serious vision loss.