“With one sample of DNA, we can obtain information from 30,000 genes to find the one that causes the hereditary eye disease.” An interview with Dr Esther Pomares

Genetic diagnosis enables us to identify those family members that could transmit visual diseases, those that will not and those who might suffer from them in the future.

BTV, with the help of Dr Esther Pomares, head of the Genetics Department of the Ocular Microsurgery Institute in Barcelona, gives us an insight into IMO’s new molecular biology laboratory, which focuses on the study of inherited eye diseases. Below is a transcript of the interview in English:

This year, you’ve opened a new molecular biology laboratory; what does the work involve?

We basically work in genetics and study eye diseases, because many of them are genetic and, therefore, hereditary, which means they can be transmitted. At IMO, we perform genetic diagnosis of these eye diseases.

How do you do this diagnosis?

From a blood sample, we purify the genomic DNA, the genetic material. From the DNA, we get information from 30,000 genes and look for the one that’s the cause of the disease. What we do in the laboratory is enlarge different regions of the gene, so that we can study and sequence them, as well as look for where the patient’s gene fails and find the mutation that causes the disease in the family.

Why is it important to make a genetic diagnosis of eye diseases?

A specific genetic diagnosis enables us to obtain a more accurate clinical diagnosis. As many eye diseases in their advanced stages are very similar, genetic diagnosis allows us to identify exactly which disease it is and to give it a name. This name enables us to establish a prognosis, in other words, how the disease will develop. Genetic diagnosis is basically very important to be able to establish how the disease is transmitted in the family. If we find the genetic cause, we can identify the family members that could transmit the disease, those that will not and those who have not developed it, but could suffer from it in the future.

The future of gene therapy

Gene therapies are currently at an experimental stage, but many of them are already being tested on patients, which means that, in the next decade, we’ll probably be able to treat patients with them, as they’ll be commercialised. IMO wants to be a pioneering centre in establishing and applying these therapies.x

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