Page 65 - Annual Report 2018
P. 65

3. SCIENTIFIC ACTIVITY



















          the creation of a European DNA biobank of Alzhei-   with the development of a non-genetic test adap-
          mer's disease (EADB). In this study, over 30,000 AD  ted to the hospital diagnostic routine for measuring
          cases and 40,000 controls in 11 countries will be   blood ApoE4 as a marker for determining the AD risk
          analyzed. GWAS and complementary statistical        and that has currently obtained the CE label.
          analyses will be carried out (based on genotype
          and imputation data) in order to identify the missing              Other collaborations
          heritability and pathophysiological mechanisms of
          the disease.                                        • Assessment of lactoferrin levels in saliva as a
                                                                 marker of Alzheimer's disease in collaboration
          This initiative will increase the number of AD samples  with Drs. Eva Carro and Félix Bermejo from the
                                                                 12 de Octubre Hospital
          available in Europe more than four times and
          around the world by almost two-fold. Carrying out
                                                              • Study of the role of lipofuscin in
          this project will allow us to understand the genetics
                                                                 neurodegeneration in collaboration with Dr. A
          of AD thus improving our knowledge of the underl-
                                                                 Kun from the University of the Republic, Uruguay
          ying pathophysiological processes in the disease;
          since the genetic factors seem to represent up to   • Study of the participation of the A peptide in
          80% of the attributable risk in AD. In parallel, the   gliogenesis and proliferation in human neural
          EADB will collect DNA samples from the largest Euro-   stem cells with Dr. I. Liste from the Carlos III
          pean longitudinal cohort of cases of mild cognitive    Health Institute.
          impairment, with the aim of identifying genetic mar-
          kers that modulate the rate of disease progression               Contribution to BT-CIEN
          and cognitive decline. From a translational pers-
          pective, the identification of genetic factors in the  The Molecular Genetics department also contribu-
          pathways that modulate AD risk and increase the     tes to the BT-CIEN with processing of various samples,
          rate of disease progression/cognitive decline will be  and collaborates on several external projects focu-
          critical for the development and testing of thera-  sed on Alzheimer's disease and other neurodegene-
          peutic approaches. Additionally, in the context of  rative diseases.
          the DEGESCO consortium, collaboration has begun
          with the GR@ACE project, led by the ACE Founda-     In the context of research focused on the study of
          tion, which will be carried out in three years, and  biomarkers and genetic susceptibility factors, the
          whose objective is the application of high resolution  UIPA Laboratory department is responsible for co-
          genomic technologies for the identification of a new  llecting, processing and storing biological samples
          generation of genes that contribute data in the de-  for research related to various projects or for its de-
          sign of new treatments to deal with Alzheimer's     posit in the BT CIEN, whose ultimate purpose is to use
          disease.                                            in different research areas on neurodegenerative di-
                                                              seases.
          In relation to the study of biomarkers and the colla-
          borative context with the company Biocross SL and   Currently, the department contributes to BT-CIEN
          with various Spanish hospitals, we continue with the  with various biological samples including 463 CSF
          plasma metabolomic studies of people with Alzhei-   samples from donor's brain and 315 skin samples.
          mer's disease, mild cognitive impairment or without
          cognitive dysfunction. In addition, we also continue








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