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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.

Team

Mar Xunclà  Lloret

Mar Xunclà Lloret

Predoctoral researcher
Genetics Medicine
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Marta Codina Solà

Marta Codina Solà

Postdoctoral researcher
Genetics Medicine
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Neus  Castells  Sarret

Neus Castells Sarret

Postdoctoral researcher
Genetics Medicine
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Paula Fernández Álvarez

Paula Fernández Álvarez

Research technician
Genetics Medicine
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Sebastian Lazaro

Sebastian Lazaro

Research technician
Genetics Medicine
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Susana Boronat Guerero

Susana Boronat Guerero

Senior researcher
Genetics Medicine
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Mar Xunclà  Lloret

Mar Xunclà Lloret

Predoctoral researcher
Genetics Medicine
Read more
Marta Codina Solà

Marta Codina Solà

Postdoctoral researcher
Genetics Medicine
Read more
Neus  Castells  Sarret

Neus Castells Sarret

Postdoctoral researcher
Genetics Medicine
Read more
Paula Fernández Álvarez

Paula Fernández Álvarez

Research technician
Genetics Medicine
Read more
Sebastian Lazaro

Sebastian Lazaro

Research technician
Genetics Medicine
Read more
Susana Boronat Guerero

Susana Boronat Guerero

Senior researcher
Genetics Medicine
Read more
Blog

News

The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.

On January 24, a session was held to explain what these three-dimensional models are and what advantages they have, as well as to review some of their applications in research.

The research has studied the structure and function of proteins related to this degenerative disease and their interaction with SMN2 messenger RNA (mRNA), which is key to the evolution of patients.