eCORE
- Personalized Medicine, Innovative Diagnostics, Molecular Imaging & Digital Health
- Woman & Child Health & Rare Diseases
Team
Group Leader
Eduardo Fidel Tizzano Ferrari
Principal Investigator (PI)
María Antolin Mate,Anna M Cueto González, Anna Abuli Vidal, Marta Codina Sola, Neus Castells Sarret, Berta Campos Estela, Mar Xunclá
Researchers
Mar Costa Roger, Laura Blasco Pérez, Nuria Martínez Gil, Jordi Leno Colorado, Alejandro Moles, Eulalia Rovira Moreno, Patricia Muñoz Cabello, Bárbara Masotto, Natalia Rey Viñets
PhD Students
Paula Barranco Bartolomé, Paula Fernandez Alvarez, Georg Lindner, Laura Trujillano Lidon, Irene Valenzuela Palafol, Amaia Lasa Aranzasti
Selected Publications
Quijano-Roy S, Servais L, Parsons JA, Aharoni S, Lakhotia A, Finkel RS; RESTORE Study Group.
Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec
Eur J Paediatr Neurol. 2024 Nov;53:18-24.
DOI: 10.1016/j.ejpn.2024.08.006.
IF: 2.6
Barbero AIS, Valenzuela I, Fernández-Alvarez P, Vazquez É, Cueto-Gonzalez AM, Lasa-Aranzasti A, Trujillano L, Masotto B, Arumí EG, Tizzano EF.
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients
Am J Med Genet A. 2025 Mar;197(3):e63905
DOI: 10.1002/ajmg.a.63905
IF: 1.7
Valenzuela I, Codina-Solà M, Vazquez E, Cueto-González A, Leno-Colorado J, Lasa-Aranzasti A, Trujillano L, Masotto B, Masas M, Escobar M, García-Arumí E, Tizzano EF
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
Genet Med. 2024 Dec;26(12):101288
DOI: 10.1016/j.gim.2024.101288
IF: 6.7
Costa-Roger M, Blasco-Pérez L, Gerin L, Codina-Solà M, Leno-Colorado J, Gómez-García De la Banda M, Garcia-Uzquiano R, Saugier-Veber P, Drunat S, Quijano-Roy S, Tizzano EF.
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
Neurol Genet. 2024 Jul 16;10(4):e200175.
DOI: 10.1212/NXG.0000000000200175
IF: 4.1
Yeo CJJ, Tizzano EF, Darras BT
Challenges and opportunities in spinal muscular atrophy therapeutics.
Lancet Neurol. 2024 Feb;23(2):205-218.
DOI: 10.1016/S1474-4422(23)00419-2
IF: 46.5
Selected Projects
SMA beyond motoneuron degeneration: multi-system aspects - SMABEYOND
Principal Investigator: Eduardo Fidel Tizzano
Agency: EUROPEAN COMMISSION
Funding: 250,904.88 €
Period: 01/10/2020 - 30/09/2024
Detection of structural genetic factors modifying the phenotype in a population with congenital defects
Principal Investigator: Anna Maria Cueto Gonzalez
Agency: Instituto de Salud Carlos III
Funding: 123,420 €
Period: 01/01/2021 - 30/06/2025
Pilot project for the implementation of a screening tool to improve the prevention, diagnosis, and treatment of patients with a neurodevelopmental psychiatric disorder: Using the 22q11.2 deletion syndrome (22q11.2DS) as a model
Principal Investigator: Anna Maria Cueto Gonzalez
Agency: Instituto de Salud Carlos III
Funding: -
Period: 01/01/2023 - 31/12/2025
Estudio de los genes que codifican las proteínas que inhiben la inclusión del exón 7 del SMN2 en pacientes con Atrofia Muscular Espinal
Principal Investigator: Eduardo Fidel Tizzano
Agency: Asociación GaliciAME
Funding: 12,000 €
Period: 22/01/2024 - 22/07/2024
Investigación de marcadores de Metiloma en pacientes con sospecha de enfermedades raras
Principal Investigator: Jair Tenorio, Co IP: Eduardo Fidel Tizzano
Agency: ISCIII
Funding: 1,518,500 €
Period: 22/01/2022 - 22/01/2026
