This project has enabled the hiring of the Principal Investigator, Luis Miguel Valor, to strengthen the following research lines at ISABIAL:
– Trinucleotide repeat expansion disorders, such as Huntington’s disease (HD). HD (ORPHA:399) is caused by an abnormal expansion of CAG repeats in exon 1 of the huntingtin (HTT) gene, leading to the production of toxic species—primarily a misfolded polyglutamine peptide (mHTT). This peptide interferes with key components involved in multiple cellular processes and forms intracellular aggregates. As a result, patients develop a complex clinical syndrome, typically beginning in mid‑adulthood (~40 years), which includes motor and cognitive impairments, psychiatric symptoms, weight loss, sleep disturbances, and other manifestations that progressively worsen until death. Despite the genetic cause of HD having been known for more than 30 years, patients still lack both reliable biomarkers for clinical management and effective treatments—gaps that our laboratory aims to address. To this end, we are searching for new biomarkers and novel biomarker sources in HD, as well as evaluating new preclinical models to elucidate mechanisms of neurodegeneration and assess potential therapeutic approaches.
– Gliomas. Gliomas constitute a highly heterogeneous group of primary brain tumors, among which the particularly aggressive glioblastomas (GBM) stand out. GBM recur despite current treatments and have a median survival of 15 months.
We are interested in epigenetic deregulation because it plays a major role in the onset and persistence of GBM, as glioma stem cells maintain an undifferentiated and proliferative epigenetic state. Therefore, its study may provide new diagnostic and prognostic biomarkers to improve patient classification, as well as new therapeutic opportunities, since—unlike somatic mutations—epigenetic alterations are reversible.
