Specialists from the Institut de la Màcula help to publicise Stargardt’s disease

World Rare Disease Day is celebrated on February 28 with the aim of raising awareness among the public about less common conditions and prioritising them on the social and health agenda.

 Dr Jordi Monés and a number of specialists from the Institut de la Màcula helped to publicise Stargardt’s Disease, one of the 7,000 rare diseases that currently lack treatment. They took part in various interviews and reports, which included coverage by radio station Radio5 of Spanish national broadcaster RNE and the newspaper ARA.

This informative work also included the invaluable collaboration of the Institut’s patients who described the situation of sufferers. These included Helena Vidal, a 25-year-old who explained her day-to-day life and how she hopes that research will lead to a treatment. Or Jorge Mariño, a young engineer who trusts in his youth and resilience to cope with the disease.

In addition to its care work, the Institut de la Macula is conducting a pioneering international collaborative study to test a new drug that helps slow the progression of Stargardt's disease. This serious genetic condition, which currently has neither treatment nor cure, is the most common hereditary macular dystrophy in children and adults and can affect one in every four thousand people. It has an important effect on lives as vision is affected by a central spot that prevents sufferers from reading, recognising faces, driving or watching television.