Clinical bioinformatics and systems medicine application to the diagnosis and therapy research of rare diseases.
Rare diseases (RDs) represent a major clinical problem that is still far from being solved. Approximately 80% of RDs have a genetic origin and, although each RD affects only a small number of people, together they are estimated to affect 6-8% of the world’s population. A medical specialist may never see more than one patient with a given RD during his or her entire career. This makes diagnosis and the search for possible treatments extremely difficult at the clinical level for these diseases.
Aim
Discovery of natural or synthetic molecules with angiogenesis modulating activity and characterisation of their molecular mechanisms of action.
To better diagnose and treat patients with rare diseases, we develop novel methodologies based on bioinformatics and systems medicine to integrate many sources of biomedical data related to patients and diseases, including phenotypic, genotypic, transcriptomic, pharmacological and bibliographic data, into large association networks. Models from these networks are then used to further our understanding of the possible causes of disease and to identify new therapeutic targets.
Network-Based Methods for Approaching Human Pathologies from a Phenotypic Point of View
Ranea JAG, Perkins J, Chagoyen M, Díaz-Santiago E, Pazos F.
Genes (Basel), 2022 Jun 17;13(6):1081.
CoMent: Relationships Between Biomedical Concepts Inferred From the Scientific Literature
Pazos F, Chagoyen M, Seoane P, Ranea JAG.
J Mol Biol, 2022 Jun 15;434(11):167568.
Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases.
Díaz-Santiago E, Jabato FM, Rojano E, Seoane P, Pazos F, Perkins JR, Ranea JAG.
PLoS Genet., 2020 Oct 1;16(10):e1009054 PMID: 33001999.
Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations.
Jabato FM, Seoane P, Perkins JR, Rojano E, García Moreno A, Chagoyen M, Pazos F, Ranea JAG.
Hum Genet., Mar;140(3):457-475 (2021) .
HORIZON-HLTH-2022-DISEASE-06 (EU)
EUropean network for neurodevelopmental RASopathies (EURAS)
2023-2026
Comprehensive Platform for the Sustainable Development of Therapies Based On Oligonucleotides.
2022-2024
Center for Industrial Technological Development (State Business R&D&I Subprogram)
IMPaCT-Data: IMPaCT Data Science Program. Research Program: IMPacT: Precision Medicine Infrastructure associated with Science and Technology.
2021-2023
MICIN, ISCIII, EU-FERDER
Bioinformatic Identification of Compensatory Pathways in Rare Diseases and Cancer for Their Treatment.
2020-2023
Junta Andalucía (PAIDI2020)
Systemic approaches based on phenotype-genotype associations to improve the diagnosis of patients with rare diseases.
2020-2023
Ministry of Science and Innovation (National Plan)
Systems Medicine Applied to the Precision Diagnosis of Patients With Undiagnosed Rare Diseases of Genetic Origin.
2019-2023
Junta Andalucía (FEDER ANDALUCÍA 2014-2020)
