The Human Molecular Genetics Laboratory is focused on the molecular study of genetic diseases, especially of rare syndromes, aiming at contributing to the medical management and follow-up of the cases.

Its line of research approaches the genetic diseases related to hearing loss, in which it analyzes genes that can cause deafness. Another field of interest are molecular studies of disorders/differences of sex development, in which the genetic causes of the discordance between genetic, gonadal and phenotypic sex are investigated. The genetic causes of nephrotic syndrome in childhood and adolescence are also a focus of the laboratory that seeks to understand the molecular mechanisms involved in the syndrome.