Since 2013, IMO has a Molecular Biology Laboratory on its premises, which was expanded four years later in order to continue promoting the genetic studies it began in 2009 through an agreement with the University of Barcelona (UB).
Under the coordination of Dr. Esther Pomares, a team of 5 geneticists is currently working in the laboratory, offering a genetic diagnosis service for approximately 30 hereditary eye diseases, in order to determine their molecular cause and support clinical diagnosis. Likewise, this service makes it possible to know the pattern of inheritance of the disease, indicating the probability of transmitting it and alerting carrier relatives who are likely to suffer from it in the future.
Genes and mutations yet to be identified
However, many genes causing these ocular pathologies of hereditary origin have yet to be identified, as are the unknown mutations in already described genes that remain undetected by conventional analysis tools.
To address these challenges, the day-to-day work of the IMO’s Department of Genetics is combined with the development of ambitious basic research projects through the IMO Foundation. These studies not only provide better understanding of genetic diseases, they also form the basis for preparing patients who are candidates for gene therapy.
Opening the door to gene therapies
Gene therapies are already at an advanced stage of study and will offer the opportunity to treat ophthalmological pathologies that currently have no cure. However, in order to apply them, the first essential step is to know where is the genetic alteration that triggers the disease in each case.
Dr. Esther Pomares, coordinator of the Genetics Department at IMO
The fact that the daily activity of the Institute incorporates genetic research, which is normally carried out in university environments, opens the door to improving the prognosis and future treatment of pathologies in a more effective way. In this sense, the expansion of the laboratory with the Area of Cell Culture and Experimentation in New Therapies, inaugurated in 2017, allows the IMO Foundation to make a firm commitment to translational medicine.
Inside the Molecular Biology Laboratory
New cell culture area
This new facilities, the first of its kind in an ophthalmological centre in Catalonia, are equipped with state-of-the-art technology and strict sterility and safety measures to test not only gene therapies, but also cellular therapies, two types of treatment in experimental phases that are not mutually exclusive and that may become complementary in the coming years.
In the following video, you will be able to see what our new cell culture area looks like, and you will learn more about the research and experiments that are carried out here: