Dr Silvia Paracchini

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.

data source: symbiosis

Research Overview from research@st-andrews

Recent publications listed in research@st-andrews
25 (of 57 published available) for sp58 (source: University of St Andrews PURE)
Please click title of any item for full details

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  vol.Early Online 
FUNCTIONAL CHARACTERIZATION OF ATP2C2, A RISK FACTOR FOR LANGUAGE DISORDERS Angela Martinelli, Irene Feliciotti, Samantha J. Pitt, Silvia Paracchini
European Neuropsychopharmacology 2019 vol.29 pp.1194-1195
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia Alessandro Gialluisi, Till F. M. Andlauer, Nazanin Mirza-schreiber, Kristina Moll, Jessica Becker, Per Hoffmann, Kerstin U. Ludwig, Darina Czamara, Beate St Pourcain, William Brandler, Ferenc Honbolygó, Dénes Tóth, Valéria Csépe, Guillaume Huguet, Andrew P. Morris, Jacqueline Hulslander, Erik G. Willcutt, John C. Defries, Richard K. Olson, Shelley D. Smith, Bruce F. Pennington, Anniek Vaessen, Urs Maurer, Heikki Lyytinen, Myriam Peyrard-janvid, Paavo H. T. Leppänen, Daniel Brandeis, Milene Bonte, John F. Stein, Joel B. Talcott, Fabien Fauchereau, Arndt Wilcke, Clyde Francks, Thomas Bourgeron, Anthony P. Monaco, Franck Ramus, Karin Landerl, Juha Kere, Thomas S. Scerri, Silvia Paracchini, Simon E. Fisher, Johannes Schumacher, Markus M. Nöthen, Bertram Müller-myhsok, Gerd Schulte-körne
Translational Psychiatry  vol.9 
Genomic imprinting as a window into human language evolution Silvia Paracchini, Andy Gardner
BioEssays 2019 vol.41 
THE KIAA0319 DYSLEXIA SUSCEPTIBILITY GENE PRESENTS A HIGHLY SPECIFIC EXPRESSION PATTERN DURING ZEBRAFISH DEVELOPMENT AND PLAYS A ROLE IN CYTOSKELETON DYNAMICS Silvia Paracchini, Monika Gostic, Nils Michael Kronenberg, Angela Martinelli, Keith Thomas Sillar, Javier Ananda Tello, Malte Christian Gather
European Neuropsychopharmacology 2019 vol.29 pp.1195-1195
The dyslexia susceptibility KIAA0319 gene shows a specific expression pattern during zebrafish development supporting a role beyond neuronal migration Monika Gostic, Angela Martinelli, Carl Tucker, Zhengyi Yang, Jade-Yi Ewart, Kishan Dholakia, Keith Thomas Sillar, Javier Ananda Tello, Silvia Paracchini
Journal of Comparative Neurology  vol.527 pp.2634-2643
The prevalence of left-handedness Marietta Papadatou-Pastou, Maryanne Martin, Marcus R. Munafò, Eleni Ntolka, Sebastian Ocklenburg, Silvia Paracchini
PsyArxiv  
The neuronal migration hypothesis of dyslexia Luiz G. Guidi, Antonio Velayos-Baeza, Isabel Martinez-Garay, Anthony P. Monaca, Silvia Paracchini, Dorothy V.M. Bishop, Zoltán Molnár
European Journal of Neuroscience 2018 vol.48 pp.3212-3233
From genes to brains Silvia Paracchini
 2017 pp.150-154
Genetics of human handedness and laterality Silvia Paracchini, Tom Scerri
 2017 pp.523-552
IDENTIFICATION OF GENETIC INTERACTIONS INVOLVED IN DYSLEXIA PATHOGENESIS Nazanin Karbalai, Darina Czamara, Kristina Moll, Franck Ramus, Rainer Malik, Thomas S Scerri, Johannes Schumacher, Andrew P. Morris, Thomas Bourgeron, Anthony P Monaco, Silvia Paracchini, Simon E Fisher, Markus Nothen, Gerd Schulte-Korne, Bertram Müller-Myhsok
European Neuropsychopharmacology 2017 vol.27 pp.S183-S184
The DCDC2 deletion is not a risk factor for dyslexia Thomas S. Scerri, Ellen Macpherson, Angela Martinelli, Wong Cheuk Wa, Anthony P. Monaco, John Stein, Mo Zheng, Connie Suk-Han Ho, Catherine McBride, Margaret Snowling, Charles Hulme, Marianna E. Hayiou-Thomas, Mary M.Y. Waye, Joel B. Talcott, Silvia Paracchini
Translational Psychiatry 2017 vol.7 
Dieci anni di genetica della dislessia Silvia Paracchini
 2016 pp.13-20
Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes Kerry Andrea Pettigrew, Emily Frinton, Ron Nudel, May T. M. Chan, Paul Thompson, Marianna E. Hayiou-Thomas, Joel B. Talcott, John Stein, Anthony P. Monaco, Charles Hulme, Margaret J. Snowling, Diane F. Newbury, Silvia Paracchini
Journal of Neurodevelopmental Disorders 2016 vol.8 
The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts Laura Covill, Kerry Andrea Pettigrew, William A. Brandler, Yiwang Xu, Javier Ananda Tello, Joel B. Talcott, Dianne F. Newbury, John Stein, Anthony P. Monaco, Silvia Paracchini
Human Molecular Genetics 2016 vol.25 pp.1771-1779
Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment Kerry Andrea Pettigrew, Emily Reeves, Ruth Leavett, Marianna E. Hayiou-Thomas, Anahita Sharma, Nuala H. Simpson, Angela Martinelli, Paul Thompson, Charles Hulme, Margaret J. Snowling, Dianne F. Newbury, Silvia Paracchini
PLoS One 2015 vol.10 
Lack of replication for the myosin-18B association with mathematical ability in independent cohorts Kerry Andrea Pettigrew, Samuelle F Fajutrao Valles, Kristina Moll, Kate Northstone, Susan Ring, Craig Pennell, Carol Wang, Ruth Leavett, Marianna E Hayiou-Thomas, Paul Thompson, Nuala H Simpson, Simon E Fisher, Andrew J O Whitehouse, Margaret J Snowling, Dianne F Newbury, Silvia Paracchini,
Genes, Brain and Behavior 2015 vol.14 pp.369-376
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort Jessica Becker, Darina Czamara, Tom S Scerri, Franck Ramus, Valéria Csépe, Joel B Talcott, John Stein, Andrew Morris, Kerstin U Ludwig, Per Hoffmann, Ferenc Honbolygó, Dénes Tóth, Fabien Fauchereau, Caroline Bogliotti, Stéphanie Iannuzzi, Yves Chaix, Sylviane Valdois, Catherine Billard, Florence George, Isabelle Soares-Boucaud, Christophe-Loïc Gérard, Sanne van der Mark, Enrico Schulz, Anniek Vaessen, Urs Maurer, Kaisa Lohvansuu, Heikki Lyytinen, Marco Zucchelli, Daniel Brandeis, Leo Blomert, Paavo Ht Leppänen, Jennifer Bruder, Anthony P Monaco, Bertram Müller-Myhsok, Juha Kere, Karin Landerl, Markus M Nöthen, Gerd Schulte-Körne, Silvia Paracchini, Myriam Peyrard-Janvid, Johannes Schumacher
European Journal of Human Genetics 2014 vol.22 pp.675-680
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment Ron Nudel, Nuala H Simpson, Gillian Baird, Anne O'Hare, Gina Conti-Ramsden, Patrick F Bolton, Elizabeth R Hennessy, Susan M Ring, George Davey Smith, Clyde Francks, Silvia Paracchini, Anthony P Monaco, Simon E Fisher, Dianne F Newbury,
Genes, Brain and Behavior 2014 vol.13 pp.418–429
Genome-wide screening for DNA variants associated with reading and language traits Alessandro Gialluisi, Dianne F Newbury, Erik G Wilcutt, Richard K Olson, John C DeFries, William M Brandler, Bruce F Pennington, Shelley D Smith, Thomas S Scerri, Nuala H Simpson, Michelle Luciano, David M Evans, Timothy C Bates, John F Stein, Joel B Talcott, Anthony P Monaco, Silvia Paracchini, Clyde Francks, Simon E Fisher,
Genes, Brain and Behavior 2014 vol.13 pp.686-701
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Nuala H Simpson, Laura Addis, William M Brandler, Vicky Slonims, Ann Clark, Jocelynne Watson, Thomas S Scerri, Elizabeth R Hennessy, Patrick F Bolton, Gina Conti-Ramsden, Benjamin P Fairfax, Julian C Knight, John Stein, Joel B Talcott, Anne O'Hare, Gillian Baird, Silvia Paracchini, Simon E Fisher, Dianne F Newbury, Sli Consortium
Developmental Medicine and Child Neurology 2014 vol.56 pp.346-353
Reading and language disorders Dianne F Newbury, Anthony P Monaco, Silvia Paracchini
Genes 2014 vol.5 pp.285-309