Page 91 - MemoriaCIBER2019-ENG

CIBERER 91
A total of 4 projects were applied for, of which only one has been resolved and awarded within the FIS Programme. Five 2018 projects have also been maintained: i) the ACCI-CIBERER Call, ii) the FEDER Funds 2018-2020 (Technological Innovation and Reinforcement of the Valencian Biobank Network- RVB) and iii) the National Plan project. These pro- jects have secured a financing of € 69,000.
Publications:
• Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich’s Ataxia Mouse Model. Belén Mollá, Diana C. Muñoz-Lasso, Pablo Calap, Angel Fernandez-Vilata, María de la Iglesia-Vaya, Federico V. Pallardó, Maria-Dolores Moltó, Francesc Palau, Pilar Gonzalez-Cabo. Neurotherapeutics, 2019 Apr;16(2):432-449. doi: 10.1007/s13311-018-00706-z.
BIER
Coordinator: Joaquín Dopazo Blázquez
During this year, the most relevant results have been the contribution to the EnoD project, in which, in addition to searching for potentially disease-causing SNVs, the search for structural variants has also been implemented. Furthermore, the database of genetic variability of the Spanish population (http://csvs.babelomics.org/) has grown to almost 2000 samples and has shown its usefulness for filtering local polymorphic variants in numerous studies , as well as bringing different researchers in contact, thus making the samples it contains discoverable. Furthermore, this “discoverability” has an international character since it is part of the GA4GH Beacon network (https://beacon-network.org/). It has also allowed the development of an imputation panel for the Spanish po- pulation. Lastly, the ACCI “Mathematical Models of Disease Mechanisms for Drug Reformulation in Rare Diseases” which uses mathematical models and artificial intelligence to semi-automatically propose drugs that are candida- tes for reuse constitutes a clear example of a paradigm shift in the research in rare diseases by proposing a me- chanistic rather than a disease-based approach. Potential drugs have been proposed for Fanconi Anemia, Familial Melanoma, Retinitis Pigmentosa, Oculocutaneous Albinism, and Williams Syndrome. In the future this will expand to include more diseases.
MAPER
In 2019, information for the MAPER database continued to be compiled, in addition to incorporating new specific data on research and healthcare resources useful for RDs and the future genomics plan. The data on research projects and clinical trials accessible through the MAPER website are as follows:
• 991 biomedical research projects included and 797 clinical trials compiled.
• 135 funding agencies participate in the financing of RD research.
• 630 Principal Investigators with at least 1 project or trial included in the database.
• Presentation of the results on February 28 at the Caixaforum in Madrid during the celebration of World Rare Diseases Day.