Page 99 - CIBERER2016-ENG

• Molecular characterization of the 22q11.2 region by MLPA techniques and its correlation with microsatellite genotyping and FISH.
• Pharmacogenetics and pharmacogenomics.
• Autosomal recessive osteogenesis imperfecta.
• Genomic diagnostic tools. Oligo-based microarrays, BCAs and SNPs.
• Genomic, epigenetic and transcriptional study of tumours in polymalformative genetic syndromes.
Macrocephaly-Capillary Malformation.
• Next Generation Sequencing as a new diagnostic tool in genetic disorders.
• Dravet Syndrome.
• Identification and characterization of molecular mechanisms involved in Disorders of Sexual
Development (DSD).
Most relevant scientific articles
• Eggermann T., Brioude F., Russo S., Lombardi M.P., Bliek J., Maher E.R. et al. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: A challenge for molecular analysis and genetic counseling. European Journal of Human Genetics. 2016;24(6):784-793.
• Sanchez-Delgado M., Riccio A., Eggermann T., Maher E.R., Lapunzina P., Mackay D. et al. Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans. Trends in Genetics. 2016;32(7):444-455.
• Szafranski P., Gambin T., Dharmadhikari A.V., Akdemir K.C., Jhangiani S.N., Schuette J. et al. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Human Genetics. 2016;135(5):569-586.
• Cea L.A., Puebla C., Cisterna B.A., Escamilla R., Vargas A.A., Frank M. et al. Fast skeletal myofibers of mdx mouse, model of Duchenne muscular dystrophy, express connexin hemichannels that lead to apoptosis. Cellular and Molecular Life Sciences. 2016;:1-17.
• Grinspon R.P., Nevado J., Mori Alvarez M.d.l.A., del Rey G., Castera R., Venara M. et al. 46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy. Clinical Endocrinology. 2016.
Hightlights
During 2016 we have contributed with47 publications, with an average impact factor of 3.8. Among them we can highlight articles in journals such as como Hum Mol Genet, JClin End Metabol, Trends Genet, Eur J Hum Genet, Hum Genet, etc. As achieved technological milestones, we havedeveloped genomic technologies
such asSNParrays and NGS platforms at the clinical setting, being a pioneer initiative in Spanish hospitals.
We have also supported the first section of bionformaticslocated in a public hospital in Madrid, with three bioinformaticians. During this period 17 competitive research projects were active, especially from public agencies (Ministries/FIS) and some European and American (2 of them managed by the CIBERER). We have initiated new interdisciplinary consultations and increased our genetic service portfolio. We increased our participation in cooperative activities. The contribution of the 2 hired CIBERER (one in aspects of clinical and translational research and the other in aspects of basic research and mechanisms and biology of rare diseases) is excellent. A large number of joint activities within the PdI such as organizing conferences, national and international workshops, the CIBERER-DNA-DAY, and organization of conferences and meetings with patients associations were performed. The position and contribution of the group within the CIBERER is excellent.
Our principal value are multidisciplinary and hospital integration and gender balance (clinical basic, clinical, molecular research and the biological basis of disease, and in the last two years, especially bioinformatics, genomics and systems biology). The INGEMM consists of 21 sections and has a large number of patients and samples from patients with rare genetic diseases.
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research groups 99