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 soon offer the opportunity to treat currently incurable eye diseases. That said, in order to be able to apply them, the first essential step is to find out the location of the genetic disorder that triggers the disease in each case.
Dr Esther Pomares, coordinator of the IMO’s Department of Genetics
The IMO’s incorporation of genetic research into its day-to-day work, which is normally undertaken in a university setting, opens the door to making prognosis and future treatment of diseases more effective.