Blindness: Portuguese scientists have a new method for diagnosing a rare disease

Researchers from the University of Coimbra developed a faster and more economical methodology for the genetic diagnosis of Leber’s Hereditary Optic Neuropathy.

A Leber’s Hereditary Optic Neuropathy (LHON, in English) is a rare disease which can lead to blindness.

This was the disease that deserved the focus of a group of scientists from Coimbra Universitywho developed a quick methodologyeconomical and efficient for your genetic diagnosis.

The method is called GenEye24 and may contribute to speed up clinical and therapeutic intervention in this pathology, which mainly affects young male adults.

LHON, a hereditary disease, is associated with a deficit in the production of energy in the retinal ganglion cells, which are essential for vision.

If this disease was diagnosed quickly, the treatment will logically be more precise and faster; increases the possibility of regain sightif applicable, explains Manuela Grazina, coordinator of the study published in the journal Science Direct.

The GenEye24 “allows the identification of three pathogenic variants most frequent – ​​Top3 (95% of the total number of genetic alterations identified) in Leber’s Hereditary Optic Neuropathy, over a period of 24 hourswith great sensitivity and specificity”, continues the professor.

Manuela Grazina underlined that the genetic diagnosis can take more than a month, currently. It takes a day.

The new approach uses PCR (polymerase chain reaction) in real time, for identification with high specificity of alterations in the mitochondrial genome.

“The test is carried out by amplification of the patient’s genetic material, extracted from the blood, with “probes” and “detectors” (primers) complementary to the sequence where the deleterious genetic alterations can be found”, adds Manuela Grazina.

The method has already been used in the screening of some patients; two of them had one of the Top3 mutations.

The team of Portuguese scientists hopes that GenEye24 will be used on a large scale in the screening of patients, due to the speed of obtaining a precise response, with great clinical utility.