MPe26-ITEM: Translational Research in Rare Diseases
Precision Medicine / IBS-MPe26 / Emerging
Through the creation of this research group, work will be carried out mainly on a new line of research focused on the “Identification of biomarkers and new therapeutic targets to improve the diagnosis, prognosis and treatment of rare diseases”, as well as on the characterization of molecular pathways involved in the development of different minority diseases through the analysis of different omic and imaging data and through the use of bioinformatics tools and artificial intelligence algorithms.
A series of general objectives are proposed that include the application of new methodologies that lead to a better characterization of the molecular bases involved in the development of RREs in order to design new diagnostic protocols and better management of this type of pathology. As a starting point, the objectives are to deepen the knowledge of Hypophosphatasia (HPP), a rare disease with multi-organ involvement and a highly variable clinical presentation. Once the proposed methodologies for HPP are optimized, they will be extrapolated to other rare diseases so that the group can focus on the study of various RREs, as indicated by their name.
Research lines
- Multiomic characterization of the pathologies under study (proteome, transcriptome, microbiome, miRNome, metabolome, etc.).
- Functional analysis of new genetic variants identified through constitutive expression in different cell lines by constructing second-generation lentiviral particles.
- Virtual studies of the three-dimensional structure of the identified protein variants.
- Application of new diagnostic imaging techniques in patients affected by the pathologies under study.
- Integration of data from different omics techniques as well as from clinical images obtained, through the use of different bioinformatics tools and artificial intelligence algorithms for (1) characterization of new molecular pathways involved in the development of the pathologies under study and (2) identification of new biomarkers and/or therapeutic targets.
Keywords
Hypophosphatasia (HPP), Rare Diseases, Biomarkers