Neurometabolic diseases

Aurora Pujol Onofre

PRINCIPAL INVESTIGATORS
  • Stephane Fourcade
  • Carlos Casasnovas Pons
POSTDOCTORAL RESEARCHERS
  • Montserrat Ruíz Sales
  • Maria Del Mar Rodriguez Ruiz
  • Agatha Schlüter Martin
PREDOCTORAL RESEARCHERS
  • Laura Planas Serra
  • Lorenzo Torreni
  • Ayelen Artuch
SCIENTIFIC SUPPORT
  • Ivan Muñoz Cabello De Alba
  • Juan Jose Martinez Garcia
  • Cristina Guilera Zapater
Neuroscience
Neuroscience

Scientific production

22

PAPERS

Average IF: 18,001

5

LED PAPERS

Average IF: 10,54

13 PUBLICATIONS IN FIRST DECILE

17 PUBLICATIONS IN FIRST QUARTILE

16 PUBLICATIONS IN OPEN ACCESS

Selected publications

  • Al Hakem,H;Doets,AY;Stino,AM;Zivkovic,SA;Andersen,H;Willison,HJ;Cornblath,DR et al, CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barre Syndrome, Neurology, 2023;100(23):2386-2397, doi:10.1212/WNL.0000000000207282
  • Schlüter,A;Vélez Santamaría,V;Verdura,E;Rodríguez Palmero,A;Ruiz,M;Fourcade,S;Planas Serra,L et al, ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization, Genome Med., 2023;15(1):doi:10.1186/s13073-023-01214-2
  • Weinhofer,I;Rommer,P;Gleiss,A;Ponleitner,M;Zierfuss,B;Waidhofer Soellner,P;Fourcade,S et al, Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy, EBioMedicine, 2023;96104781-104781, doi:10.1016/j.ebiom.2023.104781
  • Schlüter,A;Vélez Santamaría,V;Verdura,E;Rodríguez Palmero,A;Ruiz,M;Fourcade,S;Planas Serra,L et al, ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization, Genome Med., 2023;15(1):doi:10.1186/s13073-023-01214-2,
  • Ortega Suero,G;Abenza Abildúa,MJ;Serrano Munuera,C;Rouco Axpe,I;Arpa Gutiérrez,FJ;Adarmes Gómez,AD;Rodríguez de Rivera,FJ et al, Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study., Neurologia, 2023;38(6):379-386, doi:10.1016/j.nrleng.2023.04.003

Research highlights

PROJECTS

5 Granted competitive projects
13 Ongoing competitive projects

2 Started clinical trials
9 Ongoing clinical trials
2 Ongoing non competitive projects

PUBLISHED WORKS

1 Clinical guideline

INNOVATION

3 Patents

1 license

NETWORKS

CIBERER
COVIDHGE
AGAUR SGR GRC
IMPaCT-GENóMICA
SCOURGE

Selected projects

  • FIS21127. Medicina multi-ómica para la comprensión de la adrenomieloneuropatía: estudio aleatorizado de fase IIb / III controlado con placebo para el estudio clínico y molecular de la acción del dimetilfumarato. Instituto de Salud Carlos III (ISCIII). Budget: 898.700€. 2022-2025. PI: PUJOL ONOFRE, AURORA.
  • USA21002. Immunologic and Predictive Features of MIS-C. NATIONAL INSTITUTES OF HEALTH NIH. Budget: 167.601,58€. 2022-2024. PI: PUJOL ONOFRE, AURORA.
  • CEE21013. UNDINE: The human genetic and immunological determinants of the clinical manifestations of SARS-CoV-2 infection: Towards personalised medicine. COMISSIÓ EUROPEA. Budget: 77.353,75€. 2022-2026. PI: PUJOL ONOFRE, AURORA.
  • FIS23013. Identificación de los desencadenantes y mecanismos moleculares de la inflamación cerebral en adrenoleucodistrofia. Instituto de Salud Carlos III (ISCIII). Budget: 315.000€. 2024-2026. PI: PUJOL ONOFRE, AURORA.
    21FIS012. Optimización del diagnóstico genético de paraparesias espásticas hereditarias y ataxias hereditarias mediante análisis del genoma long-read, transcriptoma, y genómica funcional. Instituto de Salud Carlos III (ISCIII). Budget: 205.700€. 2021-2023. PI: CASASNOVAS PONS, CARLOS.