The Genetics Medicine Group belongs to the Clinical and Molecular Genetics Area of the Vall d'Hebron Hospital and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development. Specific research lines:
  • Neuromuscular development, genetics and molecular therapy for spinal muscular atrophy.
  • Evaluation of pathogenic CFTR variants in cystic fibrosis.
  • Genetic basis of mental retardation, CNS malformations and autism spectrum disorders.
  • Epigenetic disorders secondary to alterations in the methylation of chromosomal regions subject to imprinting.
  • Genetic basis of aortic pathology, RASopathies, 22q11.2 deletions and duplications, tuberous sclerosis, disorders of sexual differentiation, hypothyroidism, growth disorders...
  • Phenotypic delineations and genomic approach to rare genetic syndromes, including fetal pathologies and malformations.
  • Development and validation of new tools and strategies for genetic diagnosis.

Group Leader
Eduardo Fidel Tizzano Ferrari

Principal Investigator (PI)
Ivon Cuscó Martí, Alberto Plaja Rustein, María Antolin Mate, Anna M Cueto González, Anna Abuli Vidal, Marta Codina Sola, Neus Castells Sarret, Berta Campos, Guillermo Tarraso Urios

Jordi Leno Colorado, Irene Valenzuela Palafol, Eulalia Rovira Moreno

PhD Students
Maite Calucho Prim, Paula Barranco Bartolomé, Laura Blasco Pérez, Paula Fernandez Alvarez, Georg Lindner








Calucho M, Gartner S, Barranco P, Fernández-Álvarez P, Pérez RG, Tizzano EF
Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis
Sci Rep. 2021 Jul 30;11(1):15511.
DOI: doi: 10.1038/s41598-021-94798-x
IF: 4.38

Blasco-Pérez L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes-Prior P, Cuscó I, Tizzano EF
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients
Hum Mutat. 2021 Jun;42(6):787-795
DOI: doi: 10.1002/humu.24200
IF: 4.32

Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E, Tizzano EF
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
J Med Genet. 2021
DOI: doi: 10.1136/jmedgenet-2020-107604
IF: 6.31

Costa-Roger M, Blasco-Pérez L, Cuscó I, Tizzano EF
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
Int J Mol Sci. 2021 Aug 21;22(16):9029
DOI: doi: 10.3390/ijms22169029
IF: 5.98

Bernal S, Pelaez I, Alias L, Baena M, De Pablo-Moreno JA, Serrano LJ, Camero MD, Tizzano EF, Berrueco R, Liras A
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies
Int J Mol Sci. 2021 Sep 8;22(18):9705
DOI: doi: 10.3390/ijms22189705
IF: 5.98

Personalized therapy for Cystic Fibrosis
Principal Investigator: Eduardo Tizzano
Agency: Mutua Madrileña Rare Disease Grant
Funding: 104,213 €
Period: 2017-2021

Aproximación genómica en atrofia muscular espinal (AME): estudio de casos especiales de pacientes con AME-5q y caracterización de pacientes con AME-no-5q
Principal Investigator: Eduardo Tizzano
Agency: ERDF funds
Funding: 159,720 €
Period: 2019-2021

Spinal Muscular Atrophy (SMA) beyond motoneuron degeneration: multi-system aspects ‘SMABEYOND’
Principal Investigator: Eduardo Tizzano
Agency: European Comission
Funding: 250,904.88 €
Period: 2020-2024

Detección de factores genéticos estructurales modificadores del fenotipo en una población con defectos congénitos
Principal Investigator: Alberto Plaja Rubstein - Anna Mª Cueto-González
Agency: ERDF funds
Funding: 123,420 €
Period: 2020-2022

Estudio de los receptores adenosinérgicos para el desarrollo de terapias en Fibrosis Quística
Principal Investigator: Elena García Arumí and Eduardo Tizzano
Agency: Industrial PhD Program AGAUR
Funding: 24,000 €+ Salary Predoctoral fellow
Period: 2021-2023