Page 27 - CIBERER-2015-eng

Knowledge Application Programme
Transversal Programmes
Cooperative and Complementary Intramural Actions (ACCI) are competitive collaborative re- search projects financed with CIBERER’s own funds. The aim of this is to encourage coopera- tive research on RD, and thus be able to increase
Title P.I.
knowledge, technical capacity, diagnostic devel- opment or therapeutic progress. The projects granted in 2015 which started in 2016 are as follows:
Coord. Units taking
unit. part Programme
New animal models of sensorineural rare diseases generated by means of CRISPR-Cas9 technology
Genetic diagnosis and possible treatment of albinism
Diagnostic biomarkers of Mitochondrial Diseases affecting the OXPHOS system
Pathogenic mechanisms in rare and common diseases associated with complement deregulation
Development of a platform for diagnosis by new generation sequencing
The landscape between Phenotyping and Genotyping in Neurological Developmental Diseases: Validation of a Model of Clinical Functional Biology
Analysis of a new function of endoglin in cell adhesion and its relevance in the physiopathology of Hereditary Haemorrhagic Telangiectasia
Treatment of mitochondrial diseases with NAD+ precursors
Drug repurposing in Fanconi anemia
Development and initial characterisation of animal models of Bartter syndrome
Implementation of massive sequencing in the study of Congenital Myopathies and congenital Myasthenic Syndromes: a model of translational research in rare diseases.
Sensorineural Pathology
Genetic Medicine
Mitochondrial and Neuromuscular Medicine
Genetic Medicine
Genetic Medicine
Mitochondrial and Neuromuscular Medicine
Genetic Medicine
Mitochondrial and Neuromuscular Medicine
Inherited Cancer, Haematological and Dermatological Diseases
Inherited Metabolic Medicine
Genetic Medicine
Montoliu José, Lluis
756
704, 709, 718, 728, 755, 761
Carracedo Álvarez, Ángel
711
704, 756
Martín Casanueva, Miguel Ángel
723
701, 713
Rodríguez de Córdoba, Santiago
738
709, 754
Dopazo Blázquez, Joaquín
715
702, 704, 728, 735, 746, 753, 755
Palau Martínez, Francesc
732
703, G19CIBERSAM
Bernabéu Quirante, Carmelo
707
734, +external
Navas Llobet, Plácido
729
717, 727, +external
Surrallés Calonge, Jordi
745
710, +external
Estévez Povedano, Raúl
750
730
Gallano Petit, Pia
705
711, 732, GCV01, GCV02, GCV03, GCV04
CIBERER I Annual report 2015 I 27