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Study of the molecular foundations of congenital malformations: cardiovascular, oculofacial and skeletal

14th national competition for scientific and technical research

Rare diseases

Senior Researcher : María José Trujillo Tiebas

Research Centre or Institution : Fundación Jiménez Díaz. Madrid

Abstract

Congenital malformations, whether cardiovascular, oculofacial or skeletal, comprise a group of diseases scarcely studied from a genetic perspective, as they belong to the group known as rare or infrequent diseases. We aim to study the genes most frequently related to these pathologies in patients and foetuses. Genes SIX3, SIX6 and PAX6 in the case of oculofacial malformations and genes NKX2.5 and ZIC3 in the case of congenital cardiopathologies. Frequent human skeletal malformations, such as achondroplastic dwarfism, hypochondroplastic dwarfism and terminal osseous dysplasias are associated with mutations in genes FGFR3 and FGFR2, which will also be studied.

Systematic genetic studies (pre- and postnatal) have advanced our knowledge of these diseases. Additionally, the genetic diagnosis of the patients enables us to classify individuals with malformations correctly and is applicable to family members with the same affectation or with malformed foetuses. This strategy allows us to individualise the genetic advice required in each case. Our results will enable us to diagnose a group of patients scarcely studied until now and offer them the possibility of carrying out a prenatal diagnosis.