STAznanost

Ljubljana researchers identify two genes linked to serious diseases

Ljubljana, 20 September - Researchers of the Clinical Institute of Medical Genetics in Ljubljana have become the first in the world to discover and publish data on two genes related to two grave human health conditions, namely a disease linked to developmental nerve system abnormalities in children and a severe heart muscle disease lethal without proper treatment.

The institute's AleŇ° Maver, the main author of papers on both discoveries, told the press at the UKC Ljubljana hospital on Tuesday that in both cases, families were studied in which there was a reasonable suspicion that the disease was genetic.

Elaborating on the disease involving nerve system abnormalities in children, severe psychomotor disability and deafness, Maver said state-of-the-art gene sequencing methods had been used to examine all literature-reported genes that could be linked to the severe disability in two children from the same family.

A remarkable change in a gene that plays a key role in the development of the cerebellum was identified. "The change in this family is extremely rare, and it is the only family in the world that has this anomaly," explained Maver.

The process for discovering the dilated cardiomyopathy gene link was very similar. Researchers identified a family in which both siblings had the condition, so they used a state-of-the-art method to screen all the genes that had been linked to the condition but did not find a match.

They eventually found that both patients lacked a gene that affects a specific component crucial for the proper functioning of the heart muscle.

The president of the European Society of Human Genetics Borut Peterlin said that the genome has not yet been fully deciphered and that every discovery of this sort means a diagnostic solution, at least for the patient, their family, sometimes also for treatment and prevention in general.

"The Institute's successes are part of a complex approach in Slovenia - we were one of the first countries in the world to introduce advanced genomic technologies into the healthcare system, and so a decade ago we started to accumulate experience, significantly improved access to genetic testing for Slovenian patients and improved the efficiency of testing," Peterlin added.