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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

Ma Irene Valenzuela Palafoll

Ma Irene Valenzuela Palafoll

Predoctoral researcher
Genetics Medicine
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Mar Costa Roger

Mar Costa Roger

Postdoctoral researcher
Genetics Medicine
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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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Ma Irene Valenzuela Palafoll

Ma Irene Valenzuela Palafoll

Predoctoral researcher
Genetics Medicine
Read more
Mar Costa Roger

Mar Costa Roger

Postdoctoral researcher
Genetics Medicine
Read more
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

Research lines

Segmental duplications, genomic rearrangements and their phenotypic consequences using molecular cytogenetic techniques (array CGH, MLPA, FISH, molecular cytogenetics)

IP: -

Projects

Continued Research Capacity (CRC)

IP: Silvia Gartner Tizzano
Collaborators: -
Funding agency: European Cystic Fibrosis Society
Funding: 25500
Reference: ECFS-CTN_CRC2021
Duration: 01/01/2021 - 30/09/2024

Implementation and new biomarker development for Personalised Medicine for Childhood Cancers in Spain

IP: Lucas Moreno Martín-Retortillo
Collaborators: Aroa Soriano Fernández, Miguel Segura Ginard, Lorena Valero Arrese, Raquel Hladun Alvaro, Elena Antima Martinez Saez, Marta Sese Faustino, Gabriela Guillén Burrieza, Josep Roma Castanyer, Andrea Vilaplana Blanes, Estela Carrasco López, Margarita Ortega Blanco, Implementation and new biomarker development for Personalised Medicine for Childhood Cancers in Spain, Asbleidy Carolina Torres Barbosa, Berta Campos Estela
Funding agency: Instituto de Salud Carlos III
Funding: 369260
Reference: PMP21/00073
Duration: 01/01/2022 - 31/12/2025

Blog

News

Over the course of one week, it will host in-person assessments for 35 families to better understand the progression of the disease and contribute to the development of new therapies.

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.