Rare Neurodegenerative Diseases


Characterization of the molecular bases of the diseases with neurodegeneration with brain iron accumulation and related movement disorders. Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the brain, and patients present with ataxia, dystonia, spasticity, parkinsonism, and additional clinical signs. NBIA disorders are rare diseases with a prevalence of 1-3/1 000 000. The main aims are: (i) To characterize the underlying molecular bases; (ii) To identify the microRNA profile that could be useful for prognosis; and (iii) To generate a CPC (Cerebellum Purkinje Cell) model from patients’ iPSCs that replicates the pathophysiology of the disease with the aim to search for therapies.

Genetic epidemiology, characterization of the microRNA profile and the microbiote associated with the Wilson’s disease. The Wilson’s disease (WD) is a rare disorder with an estimated prevalence of 1/30 000. The WD is caused by a progressive accumulation of copper in the organism, caused by an abnormal activity of the protein encoded by the ATP7B gene, which transports copper into bile and incorporates it into ceruloplasmin. The research project includes three approaches: (i) To characterize genetically the WD patients from the Valencian Land and to gain insight into the genetic epidemiology; (ii) To identify the microRNA profile that could be useful for prognosis; and (iii) To define the intestinal flora and to investigate its contribution to the clinical picture.

Characterization of biomarkers involved in childhood epilepsy. Epilepsy constitutes one of the most frequent paediatric chronic diseases. Very recently, epigenetic factors have been identified, such as microRNAs, whose peripheral expression could allow differentiating subgroups from patients with epilepsy from different origin or clinical evolution. We work with four cohorts of clinically well-characterized patients classified according to focal, generalized, structural and epileptic encephalopathy. The main objective of this study is to identify the microRNA signature associated with each of these forms to improve the diagnosis and prognosis of these patients.