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“La Genomica in Sanità Pubblica: Attualità E Futuro”

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“La Genomica in Sanità Pubblica: Attualità E Futuro” Curricula RELATORI M. 0701-08 Rev. 00 del 07/04/2014 Silvia De Rubeis E-mail [email protected] Date of birth 03/05/1982 Work address Dept. Psychiatry, Icahn School of Medicine at Mount Sinai Home address 68 E 97th street apt 24, New York, 10029 NY Phone +1-212-241-0241 Nationality italian Research experience 03/2013-present Seaver postdoctoral fellow Dept. Psychiatry, Icahn School of Medicine at Mount Sinai, New York, USA Dr. Joseph D. Buxbaum 01/2010-12/2012 Postdoctoral fellow Center for Human Genetics, Katholieke Universiteit Leuven, Belgium Dr. Claudia Bagni 03-04/2010 EMBO short-term postdoctoral fellow Center for Neural Science, New York University, New York, USA Dr. Eric Klann Education 2006-2009 PhD in Cellular and Molecular Biology University of Rome ‘Tor Vergata’, Rome, Italy Dr. Claudia Bagni 2004-2006 Master bachelor in Cellular and Molecular Biology University of Rome ‘Tor Vergata’, Rome, Italy Dr. Claudia Bagni 2001-2004 Bachelor in Molecular and Cellular Biology University of Rome ‘Tor Vergata’, Rome, Italy Dr. Patrizia M. Baldini Publications 1. Ionita-Laza I, Capanu M, De Rubeis S, McCallum J, Buxbaum JD. Identification of rare causal variants in sequence-based studies: methods and applications to gene VPS13B, involved in Cohen syndrome and autism. PLoS Genetics, 10(12):e1004729 2. De Rubeis S, He X, Goldberg AP, Poultney CP, et al. Synaptic, chromatin and transcriptional genes disrupted in autism. Nature, 515(7526), 209-15 3. Braat S, D’Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF. The GABAA Receptor is an FMRP Target with Therapeutic Potential in Fragile X Syndrome. Cell cycle, in press Silvia De Rubeis, CV 4. De Rubeis S, Pasciuto E, Li KW, Fernandez E, Di Marino D, Buzzi A, Ostroff LE, Zwartkruis F, Klann E, Komiyama NH, Grant S, Choquet D, Poujol C, Achsel T, Posthuma D, Smit AB, Bagni C (2013). CYFIP1 co-ordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation. Neuron, 79(6), 1169-82. 5. Poultney CS, Goldberg AP, Drapeau E, Kou Y, Harony-Nicolas H, Kajiwara Y, De Rubeis S, Durand S, Stevens C, Rehnström K, Palotie A, Daly MJ, Ma'ayan A, Fromer M, Buxbaum JD (2013). Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder. AJHG, 93(4):607-619. 6. He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliff JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K (2013). Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genetics, 9(8). 7. Tassone F *, De Rubeis S *, Carosi C, La Fata G, Serpa G., Raske C, Willemsen R, Hagerman PJ, Bagni C (2011). Differential usage of transcriptional start sites and polyadenylation sites in Fmr1 premutation alleles. Nucleic Acids Res, 39(14):6172-85 *equal contribution 8. De Rubeis S and Bagni C (2011). Regulation of molecular pathways in Fragile X Syndrome: insights into Autism Spectrum Disorders. J Neurodev Disorders, 3(3):257-69. 9. De Rubeis S and Bagni C (2010). Fragile X mental retardation protein control of neuronal mRNA metabolism: insights into mRNA stability. Mol Cell Neurosci, 43, 43-50. 10. Fazi B, Melino S, De Rubeis S, Bagni C, Paci M, Piacentini M and Di Sano F (2009) Acetylation of RTN-1C regulates the induction of ER-stress via inhibition of HDAC activity in neuroectodermal tumors. Oncogene, 28(43), 3814-24. 11. Napoli I, Mercaldo V, Pilo Boyl P, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T and Bagni C (2008). The Fragile X Mental Retardation Protein represses activity-dependent mRNA translation through CYFIP1, a new 4E-BP. Cell, 134(6), 1042-1054. 12. Zalfa F, Eleuteri B, Dickson KS, Mercaldo V, De Rubeis S, Di Penta A, Tabolacci E, Chiurazzi P, Neri G, Grant SGN and Bagni C (2007). A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nat Neurosci, 10 (5), 578-587. Bookchapters • De Rubeis S, Fernandez E, Buzzi A, Di Marino D, and Bagni C (2012). Molecular and cellular aspects of mental retardation in the Fragile X Syndrome: from gene mutation/s to spine dysmorphogenesis, Adv Exp Med Biol. 2012; 970:517-51. • De Rubeis S and Bagni C (2011). Identification and characterization of protein complexes from total brain and synaptoneurosomes: heterogeneity of molecular complexes in distinct subcellular domains. Neuroproteomics, edited by Li KW, Humana Press • De Rubeis S and Bagni C (2008). Synaptosome. Encyclopedia of Neuroscience, edited by Binder MD, Hirokawa N, Windhorst U, Hirsch, MC. Springer, Part 19, 3982-3985. 2 Silvia De Rubeis, CV Funding and Awards 2014 Travel grant, Janelia Conference ‘High-Throughput Sequencing for Neuroscience’ 2013 Seaver postdoctoral fellowship 2011 Zeiss Travel Grant, Gordon Research Conference ‘Dendrites: molecules, structure and function’ 2010 EMBO short-term postdoctoral fellowship 2009 Best poster award, ‘Telethon Convention 2009’ 2008-2009 International scholarship, Katholieke Universiteit Leuven 2007 Travel grant, Universidad Internacional de Andalucia, ‘Fragile X-related syndromes: from molecular to clinical approach’ Travel grant, Italian Society of Neuroscience Travel fund, Conquer Fragile X Foundation Best poster award, ‘Florida Fragile X Research Conference: from mechanism to medicine’, Conquer Fragile X Foundation ‘Sebastiano e Rita Raeli’ bachelor award 2006-2007 PhD fellowship, Italian Association for Fragile X Conferences 2014 Janelia Conference ‘High-Throughput Sequencing for Neuroscience’, poster American Society of Human Genetics 2014, selected speaker New York Illumina User Group Meeting, invited speaker Pitt-Hopkins Research Symposium, invited speaker 2012 CSHL Meeting on Translational Control, selected speaker IX International symposium of molecular genetics – FRAXopathies and RASopathies, invited speaker 2011 Italian Society of Human Genetics, invited speaker European Neurodegenerative Diseases 2011, invited speaker EMBO meeting ‘Intracellular RNA localization and localized translation’, selected speaker Gordon Research Conference ‘Dendrites: molecules, structure and function’, selected speaker 2010 Giovanni Armenise Harvard Foundation, 13th Annual Symposium Neuronal Function and Neurological Disorders 3 Silvia De Rubeis, CV EMBO Conference ‘Protein synthesis and translational control’, poster 2009 VIB11 retreat, selected speaker Belgian Society for Neuroscience, poster VIB retreat, poster Convention Telethon 2009, poster (best poster award) FENS 2009, poster FENS satellite ‘Synaptic basis of disease’, poster 2008 EMBO meeting ‘RNA and disease: RNA metabolism and associated pathologies’, poster Intellective disabilities and rehabilitation, Associazione Italiana X Fragile, invited speaker 2007 Fragile X-related syndromes: from molecular to clinical approach, selected speaker Italian Society for Neuroscience, selected speaker IX National Congress of Italian Fragile X, selected speaker Fragile X Research Conference: from mechanism to medicine, poster (best poster award) 2006 FISV 2006, selected speaker Teaching experience 2013 Guest lecture ‘Genetics of autism’ Icahn School of Medicine at Mount Sinai 2011-2012 Advanced Biology of the Cell, 1st year Master in Biology (3 hrs), KUL Hot topics in Cell Biology, 1st year Master in Biology (3 hrs), KUL 2010-2011 Advanced Biology of the Cell, 1st year Master in Biology (1.5 hrs), KUL Hot topics in Cell Biology, 1st year Master in Biology (3 hrs), KUL 2009-2010 Assisting in ‘Advanced Biology of the Cell’ and ‘Hot topics in Cell Biology’, KUL 2006-2007 Tutor in Molecular Biology for Human Biology and Ecology, University of Rome ‘Tor Vergata’ • Supervisor of master students and technicians • External jury member for master thesis in Biology, Katholieke Universiteit Leuven • Supervisor for students of the University of Paris Magistère de Génétique training program (exchange program with Icahn School of Medicine at Mount Sinai) Related Professional Experience Reviewer for Neuroscience (Top reviewer in 2011) Reviewer for Molecular Autism Member of IMFAR Scientific commentaries De Rubeis S and Buxbaum JD (2014). Challenges in autism research: translating genetic findings into novel therapeutics, guest article on BioMed Central Blog for the Autism Awareness Month 4 Silvia De Rubeis, CV De Rubeis S and Buxbaum JD (2014). Genetic advances in autism: leading the way to improved care, guest article for Genetic Alliance Languages Italian (native speaker), English, French 5 CURRICULUM VITAE Name De Vries, Lambertus Bastiaan Arie Date of Birth 22nd January 1964 Place of Birth Puttershoek, The Netherlands Nationality Dutch Private Address Hobbel 15a 5661 TN Riethoven The Netherlands Professional Address Dept. of Human Genetics University Medical Centre Nijmegen P.O. Box 9101, 6500 HB Nijmegen The Netherlands Telephone: 024-3613946 Fax: 024-3565026 e-mail: [email protected] EDUCATION AND QUALIFICATIONS 1976-1982 Atheneum RSG Oud-Beijerland Secondary school 1982-1990 Medical School, Doctorandus examination, May 1987 Erasmus University Rotterdam Medical Degree, March 1990 ECFMG certificate for Foreign Medical Graduates, October 1990 1990-1997 Dept. of Clinical Genetics, PhD in Clinical Genetics, April 1997 University Hospital Rotterdam 1996-1999 Dept. of Clinical Genetics, Senior Registrar University Hospital Rotterdam 1999-2000 Clinical Genetics Unit Clinical Research Fellow Institute of Child Health, London
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