“Stargardt’s disease and Retinitis Pigmentosa can’t be stopped, the clock is ticking and, unless we hurry, there will be some people whom we can’t help”
Dr. Jordi Monés MD, PhD and the full medical and healthcare team of the Institut de la Màcula have added their voices to World Rare Disease Day for another year in order to raise awareness and provide information about these pathologies. "When we conduct research, we bear in mind the cases of different people. This gives you the strength to progress as quickly as possible," the retinologist and researcher says
For another year, the Institut de la Macula has added its voice to Rare Disease Day, which is observed on the last day of February in order to raise awareness and provide information about these pathologies and position them as one of the main public health problems. In Catalonia, more than 400,000 people are affected by the over 7,000 rare diseases in existence, with the number of patients reaching more than 300 million worldwide.
The support of the Institut de la Màcula, led by the ophthalmologist and researcher Dr. Jordi Monés MD, PhD, goes beyond the symbolic. One of the various fields of research in which Dr. Monés works are the new therapies applied to degenerative retinal diseases, especially with gene therapies and stem cell regeneration. He is currently a scientific advisor to several biotech companies, such as CellCure and Reneuron in the field of regenerative stem cell therapy for geographic atrophy (GA) and for retinitis pigmentosa, respectively. With regard to Stargardt's disease, the Institut de la Màcula is the only centre in the Spanish state participating in an international clinical trial to test a new drug that helps to stem the progression of the pathology. The trial aims to test the efficacy and safety of Zimura (OPH2005, multicentre phase IIb study).
"Just as we have discovered treatment for many blindness-causing diseases over the past twenty years, we will surely do so with many others in the next ten," Dr Monés says. “When we conduct research, we bear in mind the cases of different people and this gives you the strength to progress as quickly as possible. Time is of the essence because the diseases can’t be stopped, the clock is ticking and, unless we hurry, there will be some people whom we can’t help.”
Jorge Mariño, Laura Ruiz and Manel Martí are some examples of the cases to which the Director of the Institut de la Màcula is referring. Mr Jorge Mariño, a young engineer who suffers from Stargardt's disease, explains that “if at the airport I can't see the panels to to find out my boarding gate, I take a photo. When I check my mobile, I enlarge the letters.” He believes that "research is essential to improve the lives of those of us who suffer from this type of disease."
“I can't make out faces when I’m out of the house, all I see are people’s silhouettes. Sometimes I don't say hello, not because I don't want to, but because I can't see them. And of course, this doesn’t go down well with people,” bemoans Ms. Laura Ruiz, a winemaker who also has Stargardt's disease.
With regard to retinitis pigmentosa, the Institut de la Màcula supports the Barcelona Macula Foundation, which has initiated the DRUG4SIGHT project. This study aims to discover and characterise a series of photosensitive drugs that restore vision in diseases such as retinitis pigmentosa and in which there have already been encouraging results in tests conducted with fish. In this case, however, once the appropriate drug is obtained, it should be tested in human and donor retinas before starting the trial in people. “In our environment, we have a lot of basic research that is directing treatment paths in experimental models. What we have to do is provide support and move from the laboratory to the patient as soon as possible,” Dr Monés says.
Manel Martí, a retinitis pigmentosa patient, is the President of the Associació Discapacitat Visual Catalunya: B1+B2+B3. After being diagnosed, he founded the entity with the aim of sharing experiences and joining forces with other people affected. Mr Martí tirelessly continues to devote all his energy to supporting people with visual disabilities and raising funds for research.
This year's international campaign for Rare Disease Day bears the slogan “We are 300 million”. Built upon three pillars, it employs the word “rare” in its aim to reach patients.
- Rare is many: There are 300 million people, the equivalent of the world’s third most populous country.
- Rare is strong: The rare disease community is connected beyond borders and defends fairness.
- Rare is proud: The reality is that everyone knows someone affected by a rare disease: support for the community must be expressed with pride.