Page 83 - MemoriaCIBER2019-ENG

CIBERER 83
• Demonstration of the potential of administered amino acid L-serine to improve neuronal function in a patient with a glutamate receptor mutation associated with atypical Rett syndrome with severe encepha- lopathy. DOI: 10.1126 / scisignal.aaw0936.
• Characterisation of the structure of one of the LAT family transporters. Mutations of these transporters are associated with diseases such as autism, cystinuria, etc. DOI: 10.1038 / s41467-019- 09837-z.
• Discovery of a new leukodystrophy, a childhood disease that leads to severe disability and death in some cases. DOI: 10.1172 / JCI123959.
• Description of the importance of a mitochondrial protease, the lack of which causes symptoms similar to Leigh’s syndrome. DOI: 10.1073 / pnas.1811938116.
In 2019, the groups of this programme have obtained a multitude of projects both in Spain and abroad, but the pro- jects promoted by patients as well as an internal collaborative project deserve special mention:
• The Spanish Federation of Rare Diseases has recognized, among others, a work led by Ma Luz Couce on undiagnosed RDs.
• The Ramón Areces Foundation finances, among others, a project led by Cristina Fillat, in which Antonia Ribes also participates, for gene therapy to correct glutaric aciduria type I in murine models; and a project led by Juan Antonio García Ranea on systems medicine applied to the identification of new therapeutic targets in RD of genetic origin where programme groups like Belén Pérez’s and Tomàs Pinós’s participate.
The Research Programme (PdI) stands out for its scientific-dissemination activity. As an example, we highlight the meeting on neurotransmitter diseases in collaboration with the De Neu Patient Association with Eduardo López-Laso and Àngels García-Cazorla, the GLUT1DS Congress which brought together the association of those affected and the researchers Belén Pérez, Rafael Artuch, Àngels Garcia Cazorla Alfons Macaya, Ma Luz Couce, Luis González Gutié- rrez-Solana and Eduardo López Laso. Another example is the meeting organised by the group led by Plácido Navas, which had the objective of agreeing on the reference values of Coenzyme Q10 levels (CoQ10) in fibroblast samples, with the participation of Rafael Artuch, Belén Pérez and Antonia Ribes, among others.
Finally, an informative video has been released to highlight how organisations of those affected collaborate with re- searchers in the search for a diagnosis of mitochondrial disorders. Miguel Ángel Martín has participated in this project.
Neurological Disorders Programme
Coordinator: Pia Gallano Petit
This Research Programme, created in 2019, is made up of 7 groups from different fields, from clinical genetics, mo- lecular genetics and molecular and cellular physiology, specialised in multiple rare neuromuscular and neurological pathologies, both of genetic and acquired origin.
The groups that make up the Programme have obtained important scientific, dissemination and collaboration results with patient associations.
Regarding the development of genomic diagnostic tools and the discovery of new genes, worth mentioning are the multiple funded research projects on the genomics of neuromuscular pathologies, such as Spinal Muscular Atrophy and Myopathies, developed by the group led by Pia Gallano. Also, the research projects on diagnostic biomarkers, highlighting the activity of the group led by Eduard Gallardo.
From a therapeutic point of view, for example, the publication in Experimental and Molecular Medicine, led by Pas- cual Sanz together with the group of José María Millán, in which metformin has been shown to relieve motor and neuropsychiatric symptoms of Huntington’s disease in murine models stands out.
In this regard, the activity of the group led by José Serratosa also deserves mentioning. In the search for therapies for Lafora disease, together with Pascual Sanz and 3 other international groups, they participate in a project to search for a cure for Lafora disease financed with $ 9.8 million by the National Institutes of Health (NIH). As part