Page 119 - CIBERER2016-ENG

Most relevant scientific articles
• Vogl C., Panou I., Yamanbaeva G., Wichmann C., Mangosing S.J., Vilardi F. et al. Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing. EMBO Journal. 2016.
• Marin A.V., Jimenez-Reinoso A., Briones A.C., Munoz-Ruiz M., Aydogmus C., Pasick L.J. et al. Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247. Journal of Allergy and Clinical Immunology. 2016.
Hightlights
PROJECTS
Obtaining three ACCI in 2016:
• Title: Development of a platform for prioritization of disease variants using exogenous sequencing data.
Coordinating Unit: Joaquin Dopazo (U715). Participating Units: U702-U704-U711-U715-U728-U746-
U753-U755. PdI: Medical Genetics.
• Title: Phenotyping and analysis of new animal and cellular models of neurosensory diseases generated
using CRISPR-Cas9 technology. Coordinating Unit: Lluis Montoliu (U756). Participating Units: U709-
U718-U728-U755-U761-U756. PdI: Neurosensory Pathology.
• Title: Characterization of variants in new diagnostic genes in hereditary breast / ovarian cancer
syndrome. Coordinating Unit: Anna Vega (U711). Participating Units: U706-U711-U728-External. PdI:
Medical Genetics. Obtaining an ONCE project:
• Title: Genotype-phenotype correlation in patients with alterations of the cellular anterior segment (pilot
study). Standardization of a non-invasive diagnostic protocol. IP: Manuela Villamar.
GROUP NETWORKS AND ALLIANCES
Creation of a multidisciplinary unit for the development of a clinical guide for the integral management of patients with tuberous sclerosis. Agreement signed with Novartis.
TECHNOLOGY TRANSFER ACTIONS TO CLINICAL PRACTICE
Implantation in clinical practice of the diagnosis of CNVs using CGH array in pathology of the anterior segment of the eye.
Obtainment of the European training certificate for non-invasive prenatal screening (NIPT) through massive sequencing.
Clinical practice implementation of genetic-molecular diagnostic based on NGS in familial (breast-ovary- colorectal) cancer.
VISITS OF RESEARCH STAFF
Rotation of five researchers from the programs / universities: Erasmus; UAM; Pablo de Olavide University of Seville; University Carlos III.
PHD THESIS / MASTER’S DISSERTATION
Two doctoral theses have been read in 2016 from doctoral students Maria Domínguez Ruiz (Director: Ignacio del Castillo) and Lucia Borreguero Escribano (Directors: Miguel Angel Moreno / Matías Morín) and two master’s dissertations in collaboration with UC3M (Marcia Asenjo and Pablo Marín, Tutor: Miguel Angel Moreno).
ER
research groups 119