Page 28 - MEMOCiberer014-ENG

RESEARCH PROJECT PROGRAMME: ACTIONS INTRAMURAL (ACCI) AND PROJECTS EXTERNAL
Cooperative and Complementary Intramural Actions (ACCI)
To encourage the development of cooperative research projects on a Rare Disease (RD) or group of related RD, a call for proposals for Cooperative and Complementary Intramural Actions was launched in 2014 . Thirteen top-quality proposals were approved . The following table shows data about all the projects that were co-funded with CIBERER funds and active after January 2015 .
Title
Biomedicine of systems for figuring out the molecular basis and modelling of leukodystrophies and hereditary spastic paraplegia
Complement and disease . Search for pathogenic mechanisms shared by rare and common diseases
Development of a new therapeutic strategy in T-cell lymphoblastic lymphomas based on the collateral damage caused by 9p21 deletions
Development of a cellular model to determine the pathogenicity of variants having an uncertain meaning in Fanconi anaemia and familial breast cancer
Search for undiscovered telomere diseases in severe combined and variable immunodeficiency patients . Identification of new genes by exome sequencing and study of mechanisms involved in telomere shortening in cellular and animal model
Development of a gene therapy strategy for glutaric aciduria type I based on genetic surgery
Homologous recombination aided by CRISPR/ Cas9 combined with direct reprogramming as a method for generating disease-free hepatocytes in patients with primary hyperoxaluria type 1
Hyperexcretion of alpha-ketoglutarate in aminoacidurias, potential cellular stress response .
Obtaining iPS cells for the study of progressive myoclonus epilepsy, Lafora type and Charcot-Marie-Tooth disease
PI
A Pujol
S Rodríguez de Córdoba
J Fernandez Piqueras
J Surralles
R Perona
C Fillat
JC Segovia
M Palacín
P Sanz
Coordinator Participating Unit units
U759 U711
U709, U738 U754
U713, U749 U717
U745 U706, U710
U757 U706, U749
U716 U737
U710 U740
U730, U731 U737
U733, U742 U721, U732
Budget (€)
80 .000
64 .500
48 .500
76 .500
56 .500
27 .500
38 .000
50 .000
37 .500
28 CIBERER » Annual report 2014