profile

Dr Silvia Paracchini:
Royal Society University Research Fellow



 



I graduated in Biological Sciences (cum laude) from University of Pavia in 1998 and obtained a DPhil in Human Genetics from Oxford University in 2003. My project, supervised by Dr Chris Tyler-Smith and Prof. Ed Southern involved the development of genotyping methods and screening of large cohorts for genetic associations with prostate cancer and male infertility. I conducted my post-doctoral training in Prof. Anthony Monaco’s group at the Wellcome Trust Centre for Human Genetics, Oxford University. My work led to the identification of strong candidate gene for dyslexia (KIAA0319) and initiated functional studies to understand the role of this gene during early development. I was appointed as Academic Fellow at the University of St Andrews in 2011 and awarded a Royal Society University Research Fellowship in the same year.

My research programme is aimed at investigating the genetic component of common neurodevelopmental disorders such as dyslexia. Dyslexia is a specific impairment in learning to read and affects as many as 5% school age children. My work involve the screening of large cohorts, carefully characterised with quantitative phenotypes and is often conducted within international multidisciplinary collaborations, such as the NeuroDys Consortium. In addition I use large population-based cohorts to pinpoint the cognitive traits affected by genetic associations. This approach allows me to study the genetic of cognitive traits, such as reading and language abilities, regardless of a clinical diagnosis. Ultimately, I am interested in the biological pathways affected by susceptibility genetic variants and in particular their impact on gene expression. I am developing a program aimed at studying the mechanisms linking genetic variation to transcription regulation. I am using both targeted approaches for single gene analysis as well as genome-wide system based on next generation sequencing platforms. The goal of my research is both to identify the genetic determinants of common disorders and to understand the mechanisms underlying human cognition.

source: symbiosis


Recent Publications:

5 (of 60 /dk/atira/pure/researchoutput/status/published available) for sp58 (source: University of St Andrews PURE)
Please click title of any item for full details

Human handedness: a meta-analysis Marietta Papadatou-Pastou, Eleni Ntolka, Judith Schmitz, Maryanne Martin, Marcus R. Munafò, Sebastian Ocklenburg, Silvia Paracchini
Psychological Bulletin 2020 vol. 146 pp. 481–524
Prevalence and heritability of handedness in a Hong Kong Chinese twin and singleton sample Mo Zheng, Catherine McBride, Connie Suk-Han Ho, Jonathan Ka-Chun Chan, Kwong Wai Choy, Silvia Paracchini
BMC Psychology 2020 vol. 8
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism Chiara Diquigiovanni, Christian Bergamini, Irene Liparulo, Francesca Bianco, Luca Masin, Vito Baldassarro, Nicola Rizzardi, Antonia Tranchina, Francesco Bruscherini, Anita Wischmeijer, Tommaso Pippucci, Emanuela Scarano, Duccio Cordelli, Romana Fata, Marco Seri, Silvia Paracchini, Elena Bonora
FASEB Journal 2019 vol. 33 pp. 11284-11302