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Projects. Life and Earth Sciences

Rare diseases

List of projects selected in the 18th National Programme

The function of the E3 ubiquitin ligase APC/C-Cdh1 in Fragile X Syndrome. Possible therapeutic application
Lead Researcher: Ángeles Almeida Parra
Research Centre: Instituto de Investigación Biomédica de Salamanca (IBSAL).


A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing
Lead Researcher: Carmen Ayuso García
Research Centre: Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM). CIBERER. Madrid.


Systemic analysis of the gene regulatory networks involved in the specification and maintenance of the retinal pigment epithelium: towards new therapies for retinal degenerative diseases
Lead Researcher: Paola Bovolenta Nicolao
Research Centre: Centro de Biología Molecular Severo Ochoa. CSIC-UAM. Madrid.


Dyskeratosis congenita. New models, New molecular keys and New treatments
Lead Researcher: María Luisa Cayuela Fuentes
Research Centre: Hospital Clínico Universitario Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca. El Palmar, Murcia.


Molecular basis of immune deficiency in wolf-hirschhorn syndrome (4p-)
Lead Researcher: César Cobaleda Hernández
Research Centre: Centro de Biología Molecular Severo Ochoa. CSIC-UAM. Madrid.


Visualisation of neuronal polysomal architecture and its alterations in Huntington's Disease
Lead Researcher: José Jesús Fernández Rodríguez
Research Centre: Centro Nacional de Biotecnología. CSIC. Madrid.


Modeling of familial cerebral cavernous malformation through cellular reprogramming
Lead Researcher: Miguel Ángel Fidalgo Pérez
Research Centre: Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS). Universidad de Santiago de Compostela.


Phosphodiesterase inhibitors as Friedreich's ataxia treatment
Lead Researcher: Pilar González Cabo
Research Centre: Centro de Investigación Biomédica en Red (CIBER de Enfermedades Raras). Facultad de Medicina y Odontología. Universidad de Valencia.


Activation of innate immunity pathways in dysferlin-deficient cells: new therapeutic targets
Lead Researcher: Noemí de Luna Salvà
Research Centre: Laboratorio de Enfermedades Neuromusculares.
Hospital de la Santa Creu y Sant Pau
. Barcelona. CIBER (Centro de Investigación Biomédica en Red).


The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model
Lead Researcher: Francesc Palau Martínez
Research Centre: Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona.


Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
Lead Researcher: María del Carmen Sánchez Fernández 
Instituto de Investigación: Instituto de Investigación contra la Leucemia Josep Carreras (IJC). Barcelona.


Astrocytes: new anti-epileptic targets in Lafora disease.
Lead Researcher: Pascual Felipe Sanz Bigorra
Research Centre: Instituto de Biomedicina de Valencia. CSIC.


AGC1 deficiency and calcium signaling in mitochondria: a new disease model for the study of pathogenic mechanisms and for the development of therapeutic strategies.
Lead Researcher: Jorgina Satrústegui Gil-Delgado
Research Centre: Centro de Biología Molecular Severo Ochoa. CSIC-UAM. Madrid.


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