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

95

total

406

impact factor

4.28

average impact factor

Group Leader: Eduardo F. Tizzano Ferrari

team

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The group belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development. We actively work in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD; SMA Europe; XUEC cognitive behavioral diseases pediatric age, CIBERER.

Specific lines of research and research subgroups include:

Neuromuscular development, genetics and molecular therapy for spinal muscular atrophy.

Genetic and functional evaluation of pathogenic variants of CFTR in patients with cystic fibrosis treated with modulators.

Genetic bases of mental retardation, CNS malformations, and autism spectrum disorders.

Epigenetic disorders secondary to alterations in the methylation of imprinted chromosomal regions.

Genetic bases of aortic pathology, RASopathies, deletions and duplications 22q11.2, tuberous sclerosis, disorders of sexual differentiation, hypothyroidism, growth disorders, skeletal dysplasias, lip and palate.

Phenotypic delineations and genomic approach to rare and ultra-rare genetic syndromes, including fetal pathologies and malformations.

Development and validation of new tools and strategies for genetic diagnosis.