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

76

total

251.861

impact factor

3.314

average impact factor

Group Leader: 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.

Contribution with different publications in spinal muscular atrophy (SMA) and rare disorders. An investigation of genotype-phenotype correlation in 3459 SMA patients (the largest published series); the utility of two markers to detect SMA 2/0 carriers; an editorial on advanced therapies for rare disorders, a review in prenatal and presymptomatic SMA aspects and phenotype delineations of PMRT7 mutations and SOX18 HTLS syndrome. The PI continues a collaboration with the Neuromuscular and Rehabilitation groups in the clinical trial SHINE treating SMA patients with antisense olignucleotide therapy which improves the incorporation of exon 7 from the SMN2 gene, a modifier of SMA phenotype. The Cystic Fibrosis Genetics Group (S. Gartner, M. Calucho, P. Fernandez, E. García-Arumi, and PI) is developing a protocol for analysis of epithelial respiratory cells as well as organoids in CF patients with specific CFTR mutations to achieve the functional response of treatment with CFTR modulators.