eCORE
- Personalized Medicine, Innovative Diagnostics, Molecular Imaging & Digital Health
- Woman & Child Health & Rare Diseases
Team
Group Leader
Eduardo Fidel Tizzano Ferrari
Principal Investigator (PI)
Plaja Rustein, Alberto ; Antolin Mate, María; Cueto González Anna M; Abuli Vidal Anna; Codina Sola Marta; Castells Sarret Neus; Berta Campos Estela, Mar Xunclá
Researchers
Mar Costa Roger, Nuria Martínez Gil (Juan de la Cierva), Jordi Leno Colorado, Alejandro Moles, Rovira Moreno, Eulalia; Patricia Muñoz Cabello, Natalia Rey Viñets
PhD Students
Barranco Bartolomé, Paula (AGAUR-Doctorado Industrial) ; Blasco Pérez, Laura (lectura y defensa tesis doctoral Junio de 2023 UAB) ; Fernandez Alvarez, Paula, Georg Lindner; Laura Trujillano Lidon; Irene Valenzuela Palafol; Amaia Lasa Aranzasti
Publications
Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E, Tizzano EF
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
Eur J Hum Genet. 2023 Feb;31(2):223-230.
DOI: 10.1038/s41431-022-01240-5
IF: 5.2
Abiusi E, Costa-Roger M, Bertini ES, Tiziano FD, Tizzano EF; all participants.
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Neuromuscul Disord. 2024 Jan;34:114-122
DOI: 10.1016/j.nmd.2023.12.008
IF: 2.8
Blasco-Pérez L, Iranzo-Nuez L, López-Ortega R, Martínez-Cruz D, Camprodon-Gómez M, Tenés A, Antolín M, Tizzano EF, García-Arumí E
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants
J Mol Diagn. 2023 Sep;25(9):692-701
DOI: 10.1016/j.jmoldx.2023.06.006
IF: 5.341
Abulí A, Costa-Roger M, Codina-Solà M, Valenzuela I, Leno-Colorado J, Rovira-Moreno E, Cueto-González A, Fernández-Álvarez P, García-Arumí E, Cuscó I, Tizzano EF
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
J Med Genet. 2023 Jun;60(6):540-546
DOI: 10.1136/jmg-2022-108607
IF: 4
Rovira-Moreno E, Abuli A, Muñoz P, Codina M, Bayes E, de Lemus M, Darras B, Tizzano E.F
The diagnosis communication process in spinal muscular atrophy: a cross-cutting view of the new challenges facing the therapeutic era
Genetics in Medicine Open 2023
DOI: 10.1016/j.gimo.2023.100825.
IF: 8.8
Projects
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 Commission
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; Co-IP: 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: Eduardo Tizzano, Elena García Arumí
Agency: Doctorado industrial AGAUR
Funding: 38,000€/year
Period: 2020-2023
Investigación de marcadores de Metiloma en pacientes con sospecha de enfermedades raras
Principal Investigator: Eduardo Tizzano
Agency: ISCIII
Funding: 1,518,500 €
Period: 2022-2024
