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25 Result(s)

Funded by an IRDiRC member = Member of a ERN =

Research projects

SPAIN

Madrid
MADRID

Inflammatory lipid signaling in adrenoleukodystrophy: Integration of multiomics for markers and new therapeutic target identification
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

New assay based on synthetic lethality for the functional analysis of variants of uncertain significance in breast cancer / familial ovary associated genes
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Corrective therapy of splicing by antisense oligonucleotides for Niemann-Pick disease type C: pre-clinical study in a murine model
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

New therapeutic approach for Ullrich and Bethlem myopathies based on edition of dominant mutations of collagen VI
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Genomic edition of the FXN Gene through the CRISPR / Cas9 system in lymphocytes of patients with Friedreich's ataxia
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Pharmacological screening and preclinical trials of Charcot-Marie-Tooth neuropathy due to mutations in GDAP1 (TREAT-CMT: drug)
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Development of chaperone pharmacological therapy for PMM2-congenital disorder of glycosylation
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Preclinical studies to demonstrate the efficacy and the safety of an ex vivo gene therapy approach in Diamond Blackfan Anemia with lentiviral vectors
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Validation of biomarkers for diagnosis and prognosis of neonatal sepsis
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Hereditary angioedema without C1 inhibitor deficiency, new diagnostic and prognostic approaches. Model for the study of FXII, a pleiotropic molecule
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

New pharmacological approach for treatment of McArdle's disease and other minor glycogenosis and update of European patient registry "EUROMAC"
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Mitochondrial and metabolic dynamics in a retinitis pigmentosa model. A new therapeutic approach?
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Degradation of huntingtin by camelid ubiquibodies
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Neurofilament detection in patients with rare neuroimmune diseases
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Genotyping and proteomic, metabolomic and functional phenotyping in Kearns-Sayre syndrome for the identification of new biomarkers and options
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Characterization of the role of fibroadipogenic precursors in the degenerative process of muscular dystrophies
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Initial studies to determine the 3D structure of MLC1
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Translational diagnostics program for undiagnosed and rare diseases: bringing together clinical phenotype, genome, and biological function and structure
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Identification of new disease-causing genes in patients with mitochondrial energy metabolism disorders and development of a platform
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Methodological and organizational bases to improve the efficiency in diagnosis of patients with rare diseases not diagnosed by genomic medicine (MEDENoD)
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberCHARLIE: CHAnging Rare disorders of LysInE metabolism
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras