Description
Aims of the Chair
The purpose of the Chair is to deepen the knowledge of the biological bases and the diagnostic and therapeutic means related to retinal degenerative diseases in general, and hereditary diseases in particular.
The aim is to improve the prevention, diagnosis, treatment and rehabilitation of this group of diseases.
As it could not be otherwise since it is a university structure, it is also intended to promote teaching among health professionals and to disseminate knowledge related to these diseases to society, with special emphasis on collaboration with patient associations.
Finally, the Phenotyping and Genetic Diagnosis Unit of the IOBA would be in a position to contribute to research, clinical and genetic diagnosis, as well as to the management of these patients.
Social and economic interest
Degenerative diseases of the retina are very prevalent and one of the main causes of visual impairment in the countries around us. This group of diseases includes, for example, age-related macular degeneration and myopic macular degeneration, which together account for the majority of ONCE memberships in our country. In these diseases, early diagnosis and treatment is important to ensure the best visual results. In addition, they are chronic diseases that generate a great burden on the social and health systems, so we must continue working to improve their prognosis and clinical management.
Hereditary Retinal Dystrophies (HRD) are rare diseases, the vast majority of which have no effective treatment and mainly affect children and young people, truncating their life projects. The emergence of new methodologies in the field of molecular biology has advanced significantly in the last decade so that more than 300 different genes capable of causing them have already been identified. The use of massive sequencing techniques has increased the success rate in genetic diagnosis to 70-80% of cases, with 20-30% of families still requiring further studies, sometimes using research techniques, to find the mutated gene that causes the disease. In addition, RHD is a disease with enormous variability, so that mutations in the same gene can produce very different clinical pictures with different implications for retinal function (some members can have mild clinical pictures and others very severe and disabling), while the same clinical picture can be caused by mutations in several genes with different chromosomal locations. For all these reasons, both clinical and genetic diagnosis is extraordinarily complex and requires a high degree of specialization.
On the other hand, gene therapy is already a reality, and in order to carry out this and some other novel treatments, it is absolutely essential to have the genetic diagnosis of each patient satisfactorily resolved, which brings us fully into the field of the emerging personalized medicine.
Well, we believe that the Phenotyping and Genetic Diagnosis Unit of the IOBA would be in a position to contribute to research, clinical and genetic diagnosis, as well as to the management of these patients. In addition, it aims to serve as a reference center for other ophthalmologists and non-expert retinologists in the country. Finally, its university nature makes it ideal for training activities aimed at these physicians.
