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Systems medicine applied to the identification of new therapeutic targets in rare genetic-based diseases

19th national competition for scientific and technical research

Rare diseases

Senior Researcher : Juan Antonio García Ranea

Research Centre or Institution : CIBERER. Universidad de Málaga


Rare diseases are hard to diagnose and treat due to their low frequency in the population, what make difficult to find enough patients for phenotypic and genotypic comparison or for carrying out consistent clinical assays. Rare disease can be caused by a wide range of mutations and typically exhibit complicated phenotypic profiles.
This project is aimed at improving our understanding of multiple rare diseases through a multidisciplinary approach involving collaborations between distinct groups with different areas of expertise in bioinformatics and clinical investigation. As we begin to better understand these diseases at the genetic and molecular level, this will shed light on novel ways to intervene in the etiology of these diseases therapeutically.

In order to achieve these aims, this project involves the development of various computational approaches, including the use of network-based approaches to prioritise disease-related genes, to identify underlying affected genetic systems and pathways, and to find potential novel therapeutic targets.

We have worked on developing the bioinformatics workflow to analyse transcriptomic data, focusing on gene expression changes associated with functional systems in the rare diseases Lafora and PMM2-CDG (Jabato et al., 2021). We have also advanced in the development of a bioinformatics workflow for miRNA transcriptomic analysis, which is able to predict which genes are regulated by differentially expressed miRNA, based on correlation analysis. We have also implemented a network based workflow based on phenotypes-patients-mutation tripartite networks that has allowed us to link phenotypes with genes and functional systems in patients and obtain comorbid clusters of pathological phenotypes, as well as identify and validate patient cohorts (Díaz-Santiago et al., 2020; Jabato et al., 2020; Díaz-Santiago et al., 2021; Rojano et al., 2021). Important results obtained from these bioinformatics analyses are now being tested experimentally.


Scientific Production
Magazine Articles 7
Communications at national conferences 1
Communications at international conferences 2


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