On the occasion of the World Day of Rare Diseases, the Barcelona Macula Foundation emphasises “the importance of research in fighting against pathologies which are uncommon but which affect more people than is generally known. One in every 20 people suffers from a rare disease and over 6000 rare diseases affect adults and children.”
The term “rare diseases” covers a highly heterogeneous and extremely wide group of pathologies. However, all of them share certain aspects, such as the difficulty entailed in diagnosing and treating them and the psychosocial burden they signify for both patients and their relatives.
One of the main problems of this type of pathology is late detection (up to 10 years), a disturbing delay bearing in mind that the majority –up to 65%- are incapacitating, degenerative, chronic and deadly. Their origin, in 80% of cases, is genetic although they may also develop as a result of infectious agents, environmental factors or causes which are still unknown.
For Dr. Monés, the Medical Director of the Barcelona Macula Foundation, “research and educational work is key to helping to increase understanding of the nature and prevalence of these diseases, together with the creation of new drugs to treat them”.
In the field of eye diseases, age-related macular degeneration in its atrophic form (dry AMD), pigmentary retinosis, Stargardt’s Disease and Leber’s congenital amaurosis are pathologies which would fit into this profile. In the case of dry AMD, the most innovative lines of research range from the clinical application of new molecules in an attempt to stop the disease from progressing to the application of special lasers and regenerative therapies through tissue or stem cell transplants.