Molecular Genetics of Urogenital Diseases. IP: Sara Larriba. This line of research is focused on the understanding of the genetic and epigenetic mechanisms involved in male urogenital disorders. Specifically, one of our projects deals with the analysis of the transcriptome and the tissue gene expression regulation mechanisms in disease. This study is complemented with the identification of new non invasive genetic biomarkers useful for the diagnosis and prognosis of urogenital pathologies.
Molecular bases of the Hereditary diseases: Cystinuria, Diseases associated with mutations in amino acid transporters, Megalencephalic Leukoencephalopathy with subcortical cysts (MLC) and Wolfram syndrome. IP: Virginia Nunes. This research line is focused on: i) the understanding of the renal amino acid reabsortion, ii) the identification of new diseases associated with alterations in the amino acids transport (deafness and cataracts), iii) the determination of new genetic factors that help to establish the molecular bases of the mentioned diseases and searching for possible therapeutical strategies, using knockout mice models as a tool.
Cancer and immune response: Development of new immunosupressors and therapeutic antitumoral agents. IP: Mercè Pérez. This line of research is focused on determining the functional and therapeutic effect of the RCAN proteins in the tumor progression and metastasis in triple negative breast cancer. On the other hand, our group identified 6 hits, small non-peptide molecules that mimic the functional effect of RCANs, which are being improved to obtain leads that will be assessed in vivo to determine their immunosuppressive and anti tumour therapeutic efficacy.
Structure and physiopathology of SLC transporters: IP: Ekaitz Errasti Murugarren. This research line is focused on the understanding of Solute carrier (SLC) transporters, from a pathophysiological, functional and structural point of view. Particularly, amino acid transporters (SLC7 family) and choline-like transporters (SLC44 family) are of particular interest as potential therapeutic targets due to their association with neurodevelopmental and sensorineural disorders.
