Published in the journal Genes (https://www.mdpi.com/864208) the first curing and validation of causal genetic variants of hearing loss in Argentina, following the recommendations of the “Hearing Loss Variant Curation Expert Panel”(https://clinicalgenome.org/affiliation/50007/). An advance for the diagnosis and genetic counseling of patients with deafness.

Great work by CONICET fellow Paula Buonfiglio, directed by Dr. Viviana Dalamón from the Hearing Loss Genetics section of the Laboratory of Hearing Physiology and Genetics in charge of Dr. Belén Elgoyhen. Recently, the members of the laboratory’s human genetics area have been incorporated into the “Panel of Experts on Hearing Loss Variants” (https://clinicalgenome.org/affiliation/50007/#heading_membership) on behalf of Argentina. This panel is made up of experts from 15 institutions on 4 continents whose function is to apply the guidelines of the American College of Medical Genetics for the classification and validation of genetic variants responsible for hearing loss.