MOLECULAR BASES AND PROGNOSIS BIOMARKERS FOR RARE NEURODEGENERATIVE DISEASES

A disease is defined as rare when it affects fewer than 1/2,000 people; most rare diseases are hereditary, paediatric, debilitating and lack of treatment. Our laboratory is interested in studying movement disorders and ataxia/spastic paraplegia. Our specific lines of research are focused on:

  • Genetic bases. These groups of diseases are characterized by wide genetic heterogeneity and many genes involved remain unknown. Our work aims to discover new genes and mutations, thereby improving the clinical and genetic diagnosis of rare diseases.
  • Gene modifiers. All these diseases present with a great variable expressivity. We aim to identify variants that, in addition to the causative mutations, contribute to the clinical outcome.
  • Prognostic biomarkers. We characterize the profiles of miRNAs, metabolomic / lipidomic and microbiome associated with the clinical picture of Wilson’s disease for their use as biomarkers that allow us to anticipate the evolution of the disease.
  • New therapies. We developed a human CPC (Cerebellum Purkinje Cell) cell model for the investigation of a severe paediatric disease PLAN (PLA2G6-associated neurodegeneration) in which to perform drug screening.

Presentation

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Research Staff

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Publications

Our scientific contributions

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain
A. SANCHEZ-MONTEAGUDO, M. ALVAREZ-SAUCO, I. SASTRE, I. MARTINEZ-TORRES, V. LUPO, M. BERENGUER and C. ESPINOS
CLINICAL GENETICS, 2020 May,  DOI:  10.1111/cge.13719,  Vol. 97,  pag. 758-763

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
Sancho P, Bartesaghi L, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V, Chrast R and Espinós C
HUMAN MOLECULAR GENETICS, 2019 May,  DOI:  10.1093/hmg/ddz006,  Vol. 28,  pag. 1629-1644

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
V. LUPO, F. GARCIA-GARCIA, P. SANCHO, C. TELLO, M. GARCIA-ROMERO, L. VILLARREAL, A. ALBERTI, R. SIVERA, J. DOPAZO, S. PASCUAL-PASCUAL, C. MARQUEZ-INFANTE, C. CASASNOVAS, T. SEVILLA and Carmen Espinós
JOURNAL OF MOLECULAR DIAGNOSTICS, 2016 Mar,  DOI:  10.1016/j.jmoldx.2015.10.005,  Vol. 18,  pag. 225-234

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
T. SEVILLA, V. LUPO, D. MARTINEZ-RUBIO, P. SANCHO, R. SIVERA, M. CHUMILLAS, M. GARCIA-ROMERO, S. PASCUAL-PASCUAL, N. MUELAS, J. DOPAZO, J. VILCHEZ, F. PALAU and Carmen Espinós
BRAIN, 2016 Jan,  DOI:  10.1093/brain/awv311,  Vol. 139,  pag. 62-72

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease
D. PLA-MARTIN, E. CALPENA, V. LUPO, C. MARQUEZ, E. RIVAS, R. SIVERA, T. SEVILLA, F. PALAU and Carmen Espinós
HUMAN MOLECULAR GENETICS, 2015 Jan,  DOI:  10.1093/hmg/ddu440,  Vol. 24,  pag. 213-229

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