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
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
