Obstetrics, Pediatrics and Genetics

Overview

The Obstetrics, Pediatrics and Genetics area is focused on the research on the congenital malformations and pediatric diseases. The Fetal Maternal Medicine group creates synergies through the combined work of basic science researchers and clinical investigators in the preclinical basis of placental insufficiency complications and congenital heart disease. The Bio-Cell Fetal group, recently incorporated, studies basic pathophysiological mechanisms of fetal and pediatric congenital malformations, while the Growth and Development group does research on pediatric endocrine diseases. There is also a Genetics Medicine group that combines genetic diagnosis and research and is pioneer in Spain.

Publications

82

total

338.132

impact factor

4.124

average impact factor

Director: Eduardo Tizzano Ferrari

team

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The Medicine Genetics Group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Valle Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development. Pioneer in Spain (was founded in 1967), it has a powerful structure of dysmorphological diagnosis, genetic counseling and laboratory of cytogenetics and molecular genetics. It is a reference center (in coordination with other hospital groups) in several pathologies such as fetal alcohol syndrome, 22q syndrome, rasopathies, hereditary aortopathies and congenital errors of adult metabolism. Specific lines have been integrated from 2014 onward with the incorporation of Dr. Eduardo Tizzano as a new PI leader, focusing also in neuromuscular development and molecular therapy in spinal muscular atrophy and, more recently, the functional evaluation of CFTR mutations in cystic fibrosis patients. The group collaborates transversally with several research groups of the VHIR and other research centers and is coordinating a new program on transversal research in rare disorders in the VHIR with 14 groups devoted to research in these areas.