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

A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures Angela Martinelli, Mabel Rice, Joel B. Talcott, Shelley Smith, Muhammad Hashim Raza, Margaret J. Snowling, Charles Hulme, John Stein, Marianna E. Hayiou-Thomas, Ziarih Hawi, Lindsey Kent, Samantha J. Pitt, Dianne F. Newbury, Silvia Paracchini
Human Molecular Genetics 2021 vol. 30 pp. 1160–1171
Hand preference and mathematical learning difficulties: New data from Greece, the United Kingdom, and Germany and two meta-analyses of the literature Marietta Papadatou-Pastou, Despoina-Athanasia Panagiotidou, Ursula Fischer, Silvia Paracchini, Giannis Karagiannakis
Laterality 2021 vol. Latest Articles
Handedness in Twins: Meta-Analyses Silvia Paracchini
PsyArXiv 2021