Dr. Carmen Espinós Armero

Principal Investigator
Research Group on Genetics and Biomarkers of Rare Diseases

Presentation


Dr. Espinós has a degree in Biological Sciences, specialising in Biochemistry, from the Universitat de València. Throughout her professional career, she has always worked on the characterisation of the genetic bases of rare diseases.

She completed her doctoral thesis in the Department of Genetics at the Universitat de València on the epidemiology and molecular genetics of Usher syndrome (1998). During her postdoctoral period, she worked in the Congenital Coagulopathies Unit of the Hospital Universitari La Fe, on projects focused on haemophilias and other deficiencies of the coagulation cascade, and at the Instituto de Biomedicina de Valencia – CSIC, on initiatives related to ataxias and peripheral neuropathies. In 2009 she was awarded with Miguel Servet research contract from the Instituto de Salud Carlos III co-financed by the CIBER for Rare Diseases (CIBERER), which allowed her to establish her own group, being group leader at the Research Centre Príncipe Felipe (CIPF) since 2013, opening new lines of research on Mendelian movement disorders such as Wilson’s disease.

Since 2009, as principal investigator, she has had consecutive and uninterrupted funding. Research grants are included in different competitive state and regional programs, both public and private, as well as service contracts with private companies.

She is currently a professor in the Genetics Department of the Faculty of Biological Sciences at the Universitat de València, and a researcher adscribed to INCLIVA.

Principal
Investigator
Dr. Carmen Espinós Armero

carmen.espinos@uv.es

Publications
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3. de la Hoz C, Lupo V, Bermejo-Guerrero L, Martin-Jimenez P, Hernandez-Lain A, Olive M, Gallardo E, Esteban-Perez J, ESPINÓS ARMERO C, Dominguez-Gonzalez . JOURNAL OF NEUROLOGY. 2024. feb. doi: 10.1007/s00415-023-12039-9. PMID: 37907725

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease. Sivera R, Pelayo-Negro A, Jerico I, Dominguez-Gonzalez C, Horga A, De Rivera F, Gallardo E, Tembl J, Bermejo-Guerrero L, Lorz M, Azorin I, Cordoba M, Fenollar-Cortes M, Millet E, Vilchez J, ESPINÓS ARMERO C, Apellaniz-Ruiz M, Sevilla . NEUROLOGY. 2024. abr. doi: 10.1212/WNL.0000000000209174. PMID: 38513194

Profile of plasma microRNAs as a potential biomarker of Wilson’s disease. Sanchez-Monteagudo A, RIPOLLÉS CAMPOS E, Murillo O, Domenech S, Alvarez-Sauco M, Girona E, Sastre-Bataller I, Bono A, Garcia-Villarreal L, Tugores A, Garcia-Garcia F, Gonzalez-Aseguinolaza G, Berenguer M, ESPINÓS ARMERO. JOURNAL OF GASTROENTEROLOGY. 2024. oct. 59:921-931. doi: 10.1007/s00535-024-02135-6. PMID: 39060521

Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.. Santorelli F, McLoughlin H, Wolter J, Galatolo D, Synofzik M, Mengel D, Opal P, AGI-WG2-Biomarkers Study Group , Irina A, Georg A, Luis B, Enrico B, Sylvia B, Samantha B, Ronald B, Edwin C, Giulia C, Nicolas D, Alexandra D, Andreas E, Ewelina E, ESPINÓS ARMERO C, Mohammed F, Mario F, Brent F, Pilar G, Holm G, Morteza H, Henry H, Jeannette H, Laura J, Osamu O, de Luis P, Guido P, Hélène P, Liana R, Francesco S, Luiza S, Thorsten S, Ludger S, Gabriella S, Net. CEREBELLUM. 2024. jun. doi: 10.1007/s12311-023-01561-1. PMID: 37243885

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.. Beijer D, Fogel B, Beltran S, Danzi M, Németh A, Züchner S, Synofzik M, AGI Ataxia NGS genomics P, Adarmes A, Alhusaini S, Ashrafi M, Bataller L, Bertini E, Boesch S, Buijsen R, Cassou E, Chan E, Damásio J, Donis K, Elert-Dobkowska E, Elsayed L, ESPINÓS ARMERO C, Hanagasi H, Heidari M, Nachbauer W, Oliveira J, Opal P, Paisan-Ruiz C, Puccio H, Saccà F, Saraiva-Pereira M, Schmidt T, Schüle R, Stevanin G, Wilke C, Yoon G, Zach N, Z. CEREBELLUM. 2024. abr. doi: 10.1007/s12311-023-01537-1. PMID: 36869969

A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment. Penning L, Berenguer M, Czlonkowska A, Double K, Dusek P, ESPINÓS ARMERO C, Lutsenko S, Medici V, Papenthin W, Stremmel W, Willemse J, Weiskirchen . Biomedicines. 2023. feb. doi: 10.3390/biomedicines11020420. PMID: 36830958

A crowdsourcing database for the copy-number variation of the Spanish population.. López-López D, Roldán G, Fernández-Rueda J, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A, CSVS Crowdsourcing Group , Peña-Chilet M, Dopazo J, Alonso A, Salgado-Garrido J, Pasalodos-Sanchez S, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Artuch R, Borrego S, Antiñolo G, Carracedo A, Amigo J, Castaño L, Tejada I, Delmiro A, ESPINÓS ARMERO C, Grinberg D, Guillén E, Lapunzina P, Lopez-Escámez J, Gallego-Martinez A, Martí R, Rovira E, Millán J, Moreno M, Morin M, Moreno-Galdó A, Fernández-Cancio M, Morte B, Mulero V, García D, Nunes V, Palau F, Perez B, Jurado L, Perona R, Pujol A, Ramos F, Lopez E, Ribes A, Ro. Human Genomics. 2023. mar. doi: 10.1186/s40246-023-00466-8. PMID: 36894999

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. Martinez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marin C, Lozano M, Gorria-Redondo N, Lupo V, Marti-Carrera I, Miranda C, Vazquez-Lopez M, Garcia-Perez A, Marco-Hernandez A, Tomas-Vila M, Aguilera-Albesa S, ESPINÓS ARMERO . INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2023. nov. doi: 10.3390/ijms242216400. PMID: 38003592

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy. Argente-Escrig H, Vilchez J, Frasquet M, Muelas N, Azorin I, Vilchez R, Millet-Sancho E, Pitarch I, Tomas-Vila M, Vazquez-Costa J, Mas-Estelles F, Marco-Marin C, ESPINÓS ARMERO C, Serrano-Lorenzo P, Martin M, Lupo V, Sevilla . NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. 2022. ago. doi: 10.1111/nan.12817. PMID: 35342985

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Baviera-Munoz R, Carretero-Vilarroig L, Francisco Vazquez-Costa J, Morata-Martinez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martinez-Torres I, Perez-Garcia J, Sivera R, Sevilla T, Vilchez J, Jaijo T, ESPINÓS ARMERO C, Millan J, Bataller L, Aller . NEUROLOGY-GENETICS. 2022. dic. doi: 10.1212/NXG.0000000000200038. PMID: 36530930

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias. Martinez-Rubio D, Hinarejos I, Sancho P, Gorria-Redondo N, Bernado-Fonz R, Tello C, Marco-Marin C, Marti-Carrera I, Jesus Martinez-Gonzalez M, Garcia-Ribes A, Baviera-Munoz R, Sastre-Bataller I, Martinez-Torres I, Duat-Rodriguez A, Janeiro P, Moreno E, Pias-Peleteiro L, O’Callaghan Gordo M, Ruiz-Gomez A, Munoz E, Josep Marti M, Sanchez-Monteagudo A, Fuster C, Andres-Borderia A, Maria Pons R, Jesus-Maestre S, Mir P, Lupo V, Perez-Duenas B, Darling A, Aguilera-Albesa S, ESPINÓS ARMERO . INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022. oct. doi: 10.3390/ijms231911847. PMID: 36233161

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3. Martinez-Rubio D, Rodriguez-Prieto A, SANCHO SALMERON P, Navarro-Gonzalez C, Gorria-Redondo N, Miquel-Leal J, Marco-Marin C, Jenkins A, Soriano-Navarro M, Hernandez A, Perez-Duenas B, Fazzari P, Aguilera-Albesa S, ESPINÓS ARMERO . HUMAN MOLECULAR GENETICS. 2022. nov. doi: 10.1093/hmg/ddac146. PMID: 35766882

A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism. Baviera-Munoz R, Martinez-Rubio D, Sastre-Bataller I, Campins-Romeu M, Losada-Lopez M, Perez-Garcia J, Novella-Maestre E, Martinez-Torres I, ESPINÓS ARMERO . NEUROLOGY-GENETICS. 2021. dic. doi: 10.1212/NXG.0000000000000642. PMID: 34825060

Charcot-Marie-Tooth disease due to MORC2 mutations in Spain. Sivera R, Lupo V, Frasquet M, Argente-Escrig H, Alonso-Perez J, Diaz-Manera J, Querol L, del Mar Garcia-Romero M, Ignacio Pascual S, Garcia-Sobrino T, Paradas C, Francisco Vazquez-Costa J, Muelas N, Millet E, Jesus Vilchez J, ESPINÓS ARMERO C, Sevilla . EUROPEAN JOURNAL OF NEUROLOGY. 2021. sep. doi: 10.1111/ene.15001. PMID: 34189813

CSVS, a crowdsourcing database of the Spanish population genetic variability.. Peña-Chilet M, Roldán G, Perez-Florido J, Ortuño F, Carmona R, Aquino V, Lopez-Lopez D, Loucera C, Fernandez-Rueda J, Gallego A, García-Garcia F, González-Neira A, Pita G, Núñez-Torres R, Santoyo-López J, Ayuso C, Minguez P, Avila-Fernandez A, Corton M, Moreno-Pelayo M, Morin M, Gallego-Martinez A, Lopez-Escamez J, Borrego S, Antiñolo G, Amigo J, Salgado-Garrido J, Pasalodos-Sanchez S, Morte B, Spanish Exome Crowdsourcing Consortium , Carracedo Á, Alonso Á, Dopazo J, Al-Shahrour F, Artuch R, Benitez J, Castaño L, Castillo I, Delmiro A, ESPINÓS ARMERO C, González R, Grinberg D, Guillén E, Lapunzina P, Lopez E, Martí R, Milá M, Millán J, Nunes V, Palau F, Perez B, Jurado L, Perona R, Pujol A, Ramos F, Ribes A, Rosell J, Rovira E, Surrallés J,. NUCLEIC ACIDS RESEARCH. 2021. ene. doi: 10.1093/nar/gkaa794. PMID: 32990755

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation. Frasquet M, Rojas-Garcia R, Argente-Escrig H, Vazquez-Costa J, Muelas N, Vilchez J, Sivera R, Millet E, Barreiro M, Diaz-Manera J, Turon-Sans J, Cortes-Vicente E, Querol L, Ramirez-Jimenez L, Martinez-Rubio D, Sanchez-Monteagudo A, ESPINÓS ARMERO C, Sevilla T, Lupo . EUROPEAN JOURNAL OF NEUROLOGY. 2021. abr. doi: 10.1111/ene.14700. PMID: 33369814

Expanding the ß-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneratio. SANCHO SALMERON P, Andres-Borderia A, Gorria-Redondo N, Llano K, Martinez-Rubio D, Yoldi-Petri M, Blumkin L, Rodriguez de la Fuente P, Gil-Ortiz F, Fernandez-Murga L, Sanchez-Monteagudo A, Lupo V, Perez-Duenas B, ESPINÓS ARMERO C, Aguilera-Albesa . INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021. mar. doi: 10.3390/ijms22052505. PMID: 33801522

Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients. MACHUCA ARELLANO C, Correa-Vela M, Garcia-Navas D, Darling A, Villalon-Garcia I, Sanchez-Alcazar J, Perez-Duenas B, Erceg S, ESPINÓS ARMERO . Stem Cell Research. 2021. may. doi: 10.1016/j.scr.2021.102338. PMID: 34087982

NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism. Jesus S, Hinarejos I, Carrillo F, Martinez-Rubio D, Macias-Garcia D, Sanchez-Monteagudo A, Adarmes A, Lupo V, Perez-Duenas B, Mir P, ESPINÓS ARMERO . NEUROLOGY-GENETICS. 2021. feb. doi: 10.1212/NXG.0000000000000543. PMID: 33585677

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center. Argente-Escrig H, Frasquet M, Vazquez-Costa J, Millet-Sancho E, Pitarch I, Tomas-Vila M, ESPINÓS ARMERO C, Lupo V, Sevilla . Annals of Clinical and Translational Neurology. 2021. sep. doi: 10.1002/acn3.51432. PMID: 34323022

Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity. Garcia-Villarreal L, Hernandez-Ortega A, Sanchez-Monteagudo A, Pena-Quintana L, Ramirez-Lorenzo T, Riano M, Moreno-Perez R, Monescillo A, Gonzalez-Santana D, Quinones I, Sanchez-Villegas A, Olmo-Quintana V, Garay-Sanchez P, ESPINÓS ARMERO C, Gonzalez J, Tugores . JOURNAL OF GASTROENTEROLOGY. 2021. ene. doi: 10.1007/s00535-020-01745-0. PMID: 33159804

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease. Sanchez-Monteagudo A, RIPOLLÉS CAMPOS E, Berenguer M, ESPINÓS ARMERO. Biomedicines. 2021. sep. doi: 10.3390/biomedicines9091100. PMID: 34572285

Projects
Reference: CIAICO/2022/204
Title: Nuevos biomarcadores y tratamientos para la epilepsia infantil
Funding body: Subvención para grupos de investigación consolidados (CIAICO 2023). Generalitat Valenciana. Conselleria d’Innovació; Universitats; Ciència i Societat Digital
Principal Investigator: Carmen Espinós
Duration: 2023 – 2025
Total budget: 90000
Reference: FPAA23-Wilson
Title: Mejora del diagnóstico y del pronóstico de pacientes con la enfermedad de Wilson
Funding body: Fundació Per Amor a l’Art (FPAA)
Principal Investigator: Carmen Espinós
Duration: 2023 – 2025
Total budget: 160088
Reference: PI21/00103
Title: Estudios clínicos; bases genéticas y biomarcadores pronóstico en enfermedades raras neurodegenerativas
Funding body: Instituto de Salud Carlos III
Principal Investigator: Carmen Espinós
Duration: 2022 – 2025
Total budget: 208.120 €
Reference: FPAA20-Wilson
Title: Bases genéticas y biomarcadores pronóstico de la enfermedad de Wilson y Wilson-like.
Funding body: Fundació Per Amor a l’Art (FPAA)
Principal Investigator: Carmen Espinós
Duration: 2020 – 2022
Total budget: 155.790 €
Reference: PI18/00147
Title: Estudios clínicos; bases genéticas y biomarcadores pronóstico en enfermedades raras neurodegenerativas
Funding body: Instituto de Salud Carlos III
Principal Investigator: Carmen Espinós
Duration: 2019 – 2021
Total budget: 123.420 €
Reference: PROMETEO/2018/135
Title: De genes a terapia en enfermedades neurodegenerativas y neuromusculares
Funding body: Generalitat Valenciana; Programa Prometeo para grupos de investigación de excelencia
Principal Investigator: Federico Pallardó
Duration: 2018 – 2021
Total budget: 320.406 €
Reference: 21500
Title: An integrative approach to develop cellular models and characterize disease mechanisms implicated in CMT2Z; a newly described axonal form of neuropathy studios
Funding body: AFM-Téléthon
Principal Investigator: Carmen Espinós
Duration: 2018 – 2021
Total budget: 185.255 €
+ Info
Title: Complejidad de las bases moleculares de trastornos del movimiento. Caracterización de la enfermedad neurodegenerativa asociada a PRDX3
Doctoral candidate: Martínez Rubio, Dolores
Director(s): Espinós, Carmen
Date of the defense: 03/12/2024
University: University de Valencia

Title: Bases moleculares y biomarcadores de enfermedades neurodegenerativas con acumulación cerebral de hierro
Doctoral candidate: Hinarejos Martínez, Isabel
Director(s): Espinós, Carmen; Erceg, Slaven
Date of the defense: 07/03/2024
University: Universitat de València

Title: Generación de un modelo de células de Purkinje de cerebelo para el estudio de dos enfermedades raras neurodegenerativas; PLAN y ARSACS
Doctoral candidate: Machuca Arellano, Candela
Director(s): Espinós, Carmen; Erceg, Slaven
Date of the defense: 18/10/2022
University: Universitat de València

Title: Genética molecular y biomarcadores de la enfermedad de Wilson
Doctoral candidate: Sánchez Monteagudo, Ana
Director(s): Espinós, Carmen; Lupo, Vincenzo
Date of the defense: 28/05/2021
University: Universitat Politècnica de València