Genetics Medicine
The Genetics Medicine group of the VHIR 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.
The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.
Specific research lines and teams include:
- Neuromuscular development, genetics and molecular therapy for spinal muscular atrophy.
- Genetic and functional evaluation of CFTR pathogenic variants in cystic fibrosis patients treated with modulators.
- Genetic bases of mental retardation, CNS malformations and autism spectrum disorders.
- Epigenetic disorders secondary to alterations in the methylation of chromosomal regions subjected to imprinting.
- Genetic bases of aortic pathology, RASopathies, 22q11.2 deletions and duplications, tuberous sclerosis, disorders of sexual differentiation, hypothyroidism, growth disorders, skeletal dysplasias, cleft lip and palate.
- Better phenotype delineations and genomic approach of rare and ultra-rare genetic syndromes including fetal pathology and malformations.
- Development and validation of new tools and strategies for genetic diagnosis.
