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Most relevant scientific articles
• Latorre-Pellicer A., Moreno-Loshuertos R., Lechuga-Vieco A.V., Sanchez-Cabo F., Torroja C., Acin-Perez R. et al. Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing. Nature. 2016;535(7613):561-565.
• Aguiar P., Pardo J., Arias M., Quintans B., Fernandez-Prieto M., Martinez-Regueiro R. et al. PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36. Movement Disorders. 2016.
• de la Hoya M., Soukarieh O., Lopez-Perolio I., Vega A., Walker L.C., van Ierland Y. et al. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Human Molecular Genetics. 2016;25(11):2256-2268.
• Fackenthal J.D., Yoshimatsu T., Zhang B., de Garibay G.R., Colombo M., Vecchi G.D. et al. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. Journal of Medical Genetics. 2016.
• Martinon-Torres F., Png E., Khor C.C., Davila S., Wright V.J., Sim K.S. et al. Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies. Scientific Reports. 2016;6.
Hightlights
In 2016 the U711 maintained an intense activity in all the lines of investigation in which we work in rare diseases. In this period, we completed the neuropsychological assessments of the participants in the ISCII-funded study on SCA36, which lead to a better understanding of clinical, neurological and cognitive characteristics of SCA36 at different stages of the disease using standardized scales. On the other hand, through the call BBMRI-LPC Whole Exome Sequencing we have sequenced the exome of several patients with albinism, which will undoubtedly contribute to improve its molecular diagnosis. In addition, one of our cancer initiatives won the GlaxoSmithKline Discovery Fast Track program. Finally, within the Innopharma Program, we gave priority to the discovery of candidate drugs for rare diseases During this period, we have obtained funding for various studies on adverse drug reactions, rare cancers, characterization of variants
in new diagnostic genes in the hereditary breast / ovarian cancer syndrome and for the development of a platform for the prioritization of variants of disease using exogenous sequencing data. Several members
of the group collaborated in the elaboration of didactic material used in 2 courses aimed to health professionals in Primary Care focused on colorectal cancer and participated in the conference on Rare Diseases organized by the Department of Health of the Xunta de Galicia. In this translational field, it is also important to point out our role in the creation of the Kertor Foundation and the close collaboration with the INGADA and ANASBABI Foundations (Ciliopatías) The coordinator of the group was named head of the Genomic Medicine program in the Steering Committee of the CIBERER, continues being a member of the Interdisciplinary Committee of the IRDiRC and received awards as IV Prize for Excellence, ONCE Galicia 2016 and so on.
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research groups 63