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Most relevant scientific articles
• Homs A, Codina-Solà M, Rodríguez-Santiago B, Villanueva CM, Monk D, Cuscó I et al. Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders. Translational psychiatry. 2016;6(7): e855.
• Zhou W., Machiela M.J., Freedman N.D., Rothman N., Malats N., Dagnall C. et al. Mosaic loss of chromosome Y is associated with common variation near TCL1A. Nature Genetics. 2016;48(5):563-568.
• Dauber A., Munoz-Calvo M.T., Barrios V., Domene H.M., Kloverpris S., Serra-Juhe C. et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Molecular Medicine. 2016.
• Caceres A., Esko T., Pappa I., Gutierrez A., Lopez-Espinosa M.-J., Llop S. et al. Ancient haplotypes at the 15q24.2 microdeletion region are linked to brain expression of MAN2C1 and children’s intelligence. PLoS ONE. 2016;11(6).
• Borralleras C., Mato S., Amedee T., Matute C., Mulle C., Perez-Jurado L.A. et al. Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. Molecular Brain. 2016;9(1).
Hightlights
We have coordinated and organized the CIBERER undiagnosed rare diseases program (ENoD) and obtained funding for its development in neurobehavioral phenotypes through a project entitled: Characterization and contribution to genetic diagnosis in a cohort of patients with intellectual disability, autism and / or epilepsy (ER16P08 2016-2018 / 149500 €), involving 4 CIBERER groups and 4 linked clinical groups.
We have also obtained funding through an ACCI to continue the ongoing project searching for early tumor risk markers in patients with chromosomal instability syndromes, coordinating the participation of other CIBERER groups and the clinical groups linked to the Instability and Cancer Program. The study is demonstrating clear clinical utility for patients.
Another milestone, in collaboration with CIBEROBN, has been the definition of a new syndromic condition due to deficiency of PAPPA2 with secondary deficiency of bioavailability of IGF1. This rare growth disorder has been shown to respond well to recombinant IGF1. There is still an ongoing observational clinical trial that will allow the repositioning of the drug as an orphan drug.
We were the guests for the meeting of the TransNational Alliance of Genetic Advisors in Barcelona (June 2016) in which the guidelines were established to define the competencies of the Genetic Advisors and to establish methods of cross-evaluation and recognition.
During 2016, there were a total of three doctoral theses presented by members of the group at the Universitat Pompeu Fabra, all in relation to our research activity in rare diseases.
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