Serena Sanna, PhD
PhD graduation, thesis on “Enhancing genetic discoveries using population-specific reference panels”, full pdf, University of Groningen, 9 May 2016
Keywords: Complex genetic traits, Complex traits mapping, Isolates, GWAS, Quantitative genetics, Genotype imputation methods
Field of Interest
My research focuses on studying the genetics of quantitative traits and complex diseases. Advanced high-throughput genotyping technologies, as well as computational tools, allow fine-scale characterization of genetic variation and have made the search of susceptibly loci successful, in particular via whole-genome association analysis approaches. Genetic studies are nowadays extremely powerful with the advent of next-generation sequencing technologies. By coupling cutting-edge technologies and methods with a special population, the Sardinians, I have identified key molecular mechanisms underlying hundreds of complex traits.
I am now interested to further expand my research in two directions: to better dissect the complexity of diseases by incorporating non-genetic components from –omics experiments, and to identify the sources of variability in symptoms and expressivity of Mendelian diseases. Further understanding of such mechanisms is the route toward the future development of personalized medicine. The LifeLines biobank - a large, prospective study of the North Netherlands population - offers an unique opportunity to explore these scientific questions.
2011-to present: Permanent position as Researcher at the Istituto di Ricerca Genetica e Biomedica (IRGB), of the National Council of Research (CNR), Cagliari (Italy) (from Sept 2016 this is a 0% appointment)
2010 (6 months): Visiting investigator at the Center for Statistical Genetics, Department of Biostatistics, University of Michigan (USA)
2007-2010: Research Investigator at the IRGB Institute of the CNR, Cagliari (Italy)
2005-2007: Post-doctoral fellow at the Center for Statistical Genetics, Department of Biostatistics, University of Michigan (USA)
Training and Education
09/05/2016: PhD, University of Groningen, The Netherlands. Thesis title: “Enhancing genetic discoveries using population-specific reference panels”, full pdf
2012 Qualified as Associate Professor in Medical Genetics for italian Universities (Abilitazione Scientifica Nazionale alle funzioni di professore di II fascia nel settore concorsuale 06/A1 ai sensi del DD n. 222/2012)
05/09/2007: Postdoc in Statistical Genetics, at Department of Biostatistics, University of Michigan, USA
12/12/2003: MSc in Mathematics (Laurea Magistrale), at University of Cagliari, Italy
Awards and Honors
2014-2016 Selected each year by Thompson Reuter for “The World’s Most Influential Scientific Minds”, listing the top researchers in science around the globe.
2013 Best CNR (National Research Council) young scientist in biomedics
2008 ESHG (European Society of Human Genetics) Young Scientist Award, Barcelona
Invited talks at International Meetings
2016 European Society of Human Genetics (ESHG) 2016, Barcelona (Italy). Presentation title: “Cost effective designs with population specific imputation panels in isolates”
2015 Member of the Scientific Committee and Invited Speaker, Genetic Epidemiology in Homogeneous Populations Symposium (GEHOPS), Nantes (France). Presentation title: “Cost effective designs with population specific imputation panels in isolates”; http://www.gehops2015.univ-nantes.fr/
2012 American Society of Human Genetics (ASHG) 2012, San Francisco (USA). Presentation title: “Using low-pass whole genome sequencing to create a reference population for genome imputation in an isolated population: Examples from the SardiNIA study”
2012 “V International meeting on complex traits and genetic isolates”, Trieste (Italy). Presentation title “Genetic and Phenotypic refinement of autoimmunity in the SardiNIA study”, http://www.cbm.fvg.it/news/v-international-meeting-complex-traits-and-genetic-isolates
Other Scientific Activities
Scientific reviewer for the following journals: Nature Genetics, PLOS Genetics, Genomes Medicine, BMC Genomics, Genes and Immunity, European Journal of Human Genetics, Journal of Medical Genetics, Human Molecular Genetics.
Scientific reviewer for UK MRC Research Grants; Scientific reviewer for ANVUR – the Italian National Agency for evaluation of university research quality
Member of the Scientific Committee organizing the “Genetic Epidemiology in Homogeneous Populations Symposium (GEHOPS)”, 2015, Nantes (France). http://www.gehops2015.univ-nantes.fr/
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