The IMO’s molecular biology laboratory was opened in 2013 with the aim of providing an impetus to the genetic studies that began in 2009 through an agreement with the University of Barcelona (UB). It is currently staffed by a team of five genetics specialists.
Under the coordination of Dr Esther Pomares, the laboratory offers a genetic diagnosis service for around thirty hereditary eye diseases to determine molecular causes and support clinical diagnoses. It also makes it possible to discover the inheritance pattern of a particular disease, indicating the probability of it being transmitted and alerting family members of the degree of likelihood of them suffering from it in the future.
Genes and mutations yet to be identified
Many genes that cause hereditary eye diseases are, however, 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.
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: