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Scientific Programmes
Genetic Medicine
Coordinator:
Ángel Carracedo Álvarez
In 2018 the Genetic Medicine Programme
2018 was also a prolific year for therapeutic research in this research programme. This is vouched for by some of the accomplishments made such as the designation of metformin as an orphan drug for treatment of Lafora disease by the FDA. The studies were undertaken
by Pascual Sanz and José Serratosa’s group. The CIBERER unit led by Luisa Botella at the
continued to work on the implementation of genomic medicine and other omic applications for the diagnostic practice of hospitals. This will indeed be the last year in which the research programme will work under this name, changing to the new title of “Programme for Translational Genomic Medicine” now entirely focussed on that objective and reduced to only
5 of the original 10 groups, with Miguel Ángel Medina’s group from the Universidad de Málaga joining us to contribute all its experience in systems medicine.
Inherited Metabolic Medicine
Coordinator:
Rafael Artuch Iriberri
The Research Programme (PdI) on Inherited Metabolic Medicine works on improving knowledge of inherited metabolic diseases and has achieved several relevant findings in 2018, such as:
• Obtaining promising results with the use of pharmacological chaperones for a type of methylmalonic aciduría, led by Belén Pérez.
Centro de Investigaciones Biológicas (CSIC) has obtained the designation of etamsylate
as orphan drug for treatment of inherited haemorrhagic telangiectasia by the European Medicine Agency.
I should lastly highlight training activities such as the course on kidney pathology, organised
on 29 October by the CIBERER led by María Teresa Caballero, and the II SCA36 International Simposium organised by Ángel Carracedo’s group.
doi.org/10.1016/j. bbadis.2017.11.024.
• Proof that LRRC8 proteins are involved
in Sertoli cell-only syndrome and megalencephalic leukoencephalopathy, led by Raúl Estévez. PMID:30076890.
• Description of a new pathogenic mechanism associated with phenylketonuria, led by Lourdes Ruiz Desviat. doi: 10.1371/ journal. pgen.1007360.
• Description of the structural relationship
of type IV collagen with Goodpasture’s disease and Alport syndrome, led by Alberto Marina. doi.org/10.1107/ S2052252518012459.
• Discovery of the implication of an amino acid transporter in age-related hearing loss, coordinated by Virginia Nunes and Manuel Palacín. doi.org/10.1073/ pnas.1519959113.
CIBERER | ANNUAL REPORT 2018