Page 30 - CIBERER2016-ENG

Programme for Cooperative and Complementary Intramural Action
Cooperative and complementary intramural actions (ACCI) are competitive collaborative intramural projects financed with the CIBERER’s own funds. These are intended to further cooperative research into RD and thus be able to increase knowledge, technical capacity, diagnostic development or therapeutic progress. These are the ones that started in 2016:
Title
IP
Coord. Unit
Participating Units
Programme
New animal models of sensori- neural rare diseases generated by CRISPR-Cas9 technology.
Montoliu Jose, Lluis
756
704, 709, 718, 728, 755, 761
Sensorineural pathology
Genetic diagnosis and possible treatment of albinism.
Carracedo Álvarez, Ángel
711
704, 756
Genetic Medicine
Diagnostic biomarkers of Mitochondrial diseases affecting the OXPHOS system.
Martín Casanueva, Miguel Ángel
723
701, 713
Mitochondrial and Neuromuscular Medicine
Pathogenic mechanisms in rare and common diseases associated with complement deregulation.
Rodríguez de Córdoba, Santiago
738
709, 754
Genetic Medicine
Development of a platform for diagnosis by new generation sequencing.
Dopazo Blázquez, Joaquín
715
702, 704, 728, 735, 746, 753, 755
Genetic Medicine
The landscape between Phenotyping and Genotyping in Neurological Developmental Disorders: Validation of a Model of Clinical Functional Biology [Neuro Landscape].
Palau Francesc, Martínez
732
703, G19CIBERSAM
Mitochondrial and Neuromuscular Medicine
Analysis of a new function of endoglin in cell adhesion and its relevance in the physiopathology of Hereditary Haemorrhagic Telangiectasia.
Bernabéu Quirante, Carmelo
707
734, +external
Genetic Medicine
Treatment of mitochondrial diseases with NAD+ precursors.
Navas Llobet, Plácido
729
717, 727, +external
Mitochondrial and Neuromuscular Medicine
Drug repurposing in Fanconi anaemia.
Surrallés Calonge, Jordi
745
710, +external
Inherited cancer, Haematological and Dermatological Diseases
Development and initial characterisation of animal models of Bartter syndrome.
Estévez Povedano, Raúl
750
730
Inherited Metabolic Medicine
Implementation of massive sequencing in the study of Congenital Myopathies and Myasthenic Syndromes: a model of translational research in rare diseases.
Gallano Petit, Pia
705
711, 732, GCV01, GCV02, GCV03, GCV04
Mitochondrial and Neuromuscular Medicine
13203