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
Scerri, TS, Macpherson, E, Martinelli, A, Wa, WC, Monaco, AP, Stein, J, Zheng, M, Ho, CS-H, McBride, C, Snowling, M, Hulme, C, Hayiou-Thomas, ME, Waye, MMY, Talcott, JB & Paracchini, S 2017, 'The DCDC2 deletion is not a risk factor for dyslexia' Translational Psychiatry, vol 7, e1182. DOI: 10.1038/tp.2017.151
Paracchini, S & Scerri, T 2017, Genetics of human handedness and laterality. in L Rogers & G Vallortigara (eds), Lateralized Brain Functions : Methods in Human and Non-Human Species. Neuromethods, vol. 122, Humana Press/Springer, pp. 523-552. DOI: 10.1007/978-1-4939-6725-4_16
Paracchini, S 2016, Dieci anni di genetica della dislessia. in Genetica e ambiente nella dislessia. Erickson, pp. 13-20.
Pettigrew, KA, Frinton, E, Nudel, R, Chan, MTM, Thompson, P, Hayiou-Thomas, ME, Talcott, JB, Stein, J, Monaco, AP, Hulme, C, Snowling, MJ, Newbury, DF & Paracchini, S 2016, 'Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes' Journal of Neurodevelopmental Disorders, vol 8, 24. DOI: 10.1186/s11689-016-9157-6
Shore, RJ, Covill, L, Pettigrew, KA, Brandler, WA, Diaz Vazquez, R, Xu, Y, Tello, J, Talcott, JB, Newbury, DF, Stein, J, Monaco, AP & Paracchini, S 2016, 'The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts' Human Molecular Genetics, vol 25, no. 9, pp. 1771-1779. DOI: 10.1093/hmg/ddw047
Paracchini, S, Diaz Vazquez, R & Stein, J 2016, Advances in dyslexia genetics—new insights into the role of brain asymmetries. in T Friedmann, JC Dunlap & SF Goodwin (eds), Advances in Genetics. Advances in Genetics, vol. 96, Elsevier, pp. 53-97. DOI: 10.1016/bs.adgen.2016.08.003
Pettigrew, KA, Reeves, E, Leavett, R, Hayiou-Thomas, ME, Sharma, A, Simpson, NH, Martinelli, A, Thompson, P, Hulme, C, Snowling, MJ, Newbury, DF & Paracchini, S 2015, 'Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment' PLoS One, vol 10, no. 8, e0134997. DOI: 10.1371%2Fjournal.pone.0134997
Pettigrew, KA, Fajutrao Valles, SF, Moll, K, Northstone, K, Ring, S, Pennell, C, Wang, C, Leavett, R, Hayiou-Thomas, ME, Thompson, P, Simpson, NH, Fisher, SE, Whitehouse, AJO, Snowling, MJ, Newbury, DF, Paracchini, S & SLI Consortium 2015, 'Lack of replication for the myosin-18B association with mathematical ability in independent cohorts' Genes, Brain and Behavior, vol 14, no. 4, pp. 369-376. DOI: 10.1111/gbb.12213
Gialluisi, A, Newbury, DF, Wilcutt, EG, Olson, RK, DeFries, JC, Brandler, WM, Pennington, BF, Smith, SD, Scerri, TS, Simpson, NH, Luciano, M, Evans, DM, Bates, TC, Stein, JF, Talcott, JB, Monaco, AP, Paracchini, S, Francks, C, Fisher, SE & The SLI Consortium 2014, 'Genome-wide screening for DNA variants associated with reading and language traits' Genes, Brain and Behavior, vol 13, no. 7, pp. 686-701. DOI: 10.1111/gbb.12158
Becker, J, Czamara, D, Scerri, TS, Ramus, F, Csépe, V, Talcott, JB, Stein, J, Morris, A, Ludwig, KU, Hoffmann, P, Honbolygó, F, Tóth, D, Fauchereau, F, Bogliotti, C, Iannuzzi, S, Chaix, Y, Valdois, S, Billard, C, George, F, Soares-Boucaud, I, Gérard, C-L, van der Mark, S, Schulz, E, Vaessen, A, Maurer, U, Lohvansuu, K, Lyytinen, H, Zucchelli, M, Brandeis, D, Blomert, L, Leppänen, PH, Bruder, J, Monaco, AP, Müller-Myhsok, B, Kere, J, Landerl, K, Nöthen, MM, Schulte-Körne, G, Paracchini, S, Peyrard-Janvid, M & Schumacher, J 2014, 'Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort' European Journal of Human Genetics, vol 22, pp. 675-680. DOI: 10.1038/ejhg.2013.199
Nudel, R, Simpson, NH, Baird, G, O'Hare, A, Conti-Ramsden, G, Bolton, PF, Hennessy, ER, Ring, SM, Smith, GD, Francks, C, Paracchini, S, Monaco, AP, Fisher, SE, Newbury, DF & the SLI Consortium 2014, 'Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment' Genes, Brain and Behavior, vol 13, no. 4, pp. 418–429. DOI: 10.1111/gbb.12127
Simpson, NH, Addis, L, Brandler, WM, Slonims, V, Clark, A, Watson, J, Scerri, TS, Hennessy, ER, Bolton, PF, Conti-Ramsden, G, Fairfax, BP, Knight, JC, Stein, J, Talcott, JB, O'Hare, A, Baird, G, Paracchini, S, Fisher, SE, Newbury, DF & Consortium, S 2014, 'Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia' Developmental Medicine and Child Neurology, vol 56, no. 4, pp. 346-353. DOI: 10.1111/dmcn.12294
Brandler, W, Morris, A, Evans, D, Scerri, T, Kemp, J, Timpson, N, St Pourcain, B, Davey Smith, G, Ring, S, Stein, J, Monaco, A, Talcott, J, Fisher, S, Webber, C & Paracchini, S 2013, 'Common variants in left/right asymmetry genes and pathways are associated with relative hand skill' PLoS Genetics, vol 9, no. 9, e10033751. DOI: 10.1371/journal.pgen.1003751
Scerri, TS, Darki, F, Newbury, DF, Whitehouse, AJO, Peyrard-Janvid, M, Matsson, H, Ang, QW, Pennell, CE, Ring, S, Stein, J, Morris, AP, Monaco, AP, Kere, J, Talcott, JB, Klingberg, T & Paracchini, S 2012, 'The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure' PLoS One, vol 7, no. 11, e50321. DOI: 10.1371/journal.pone.0050321
Scerri, TS, Morris, AP, Buckingham, L-L, Newbury, DF, Miller, LL, Monaco, AP, Bishop, DVM & Paracchini, S 2011, 'DCDC2, KIAA0319 and CMIP Are Associated with Reading-Related Traits' Biological Psychiatry, vol 70, no. 3, pp. 237-245. DOI: 10.1016/j.biopsych.2011.02.005
Scerri, TS, Brandler, WM, Paracchini, S, Morris, AP, Ring, SM, Richardson, AJ, Talcott, JB, Stein, J & Monaco, AP 2011, 'PCSK6 is associated with handedness in individuals with dyslexia' Human Molecular Genetics, vol 20, no. 3, pp. 608-614. DOI: 10.1093/hmg/ddq475
Newbury, DF, Paracchini, S, Scerri, TS, Winchester, L, Addis, L, Richardson, AJ, Walter, J, Stein, JF, Talcott, JB & Monaco, AP 2011, 'Investigation of Dyslexia and SLI Risk Variants in Reading- and Language-Impaired Subjects' Behavior Genetics, vol 41, no. 1, pp. 90-104. DOI: 10.1007/s10519-010-9424-3
Scerri, TS, Paracchini, S, Morris, A, MacPhie, IL, Talcott, J, Stein, J, Smith, SD, Pennington, BF, Olson, RK, DeFries, JC & Monaco, AP 2010, 'Identification of candidate genes for dyslexia susceptibility on chromosome 18' PLoS One, vol 5, no. 10, e13712. DOI: 10.1371/journal.pone.0013712
Pagnamenta, AT, Bacchelli, E, de Jonge, MV, Mirza, G, Scerri, TS, Minopoli, F, Chiocchetti, A, Ludwig, KU, Hoffmann, P, Paracchini, S, Lowy, E, Harold, DH, Chapman, JA, Klauck, SM, Poustka, F, Houben, RH, Staal, WG, Ophoff, RA, O'Donovan, MC, Williams, J, Noethen, MM, Schulte-Koerne, G, Deloukas, P, Ragoussis, J, Bailey, AJ, Maestrini, E, Monaco, AP & Autism Consortium 2010, 'Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia' Biological Psychiatry, vol 68, no. 4, pp. 320-328. DOI: 10.1016/j.biopsych.2010.02.002
Newbury, DF, Winchester, L, Addis, L, Paracchini, S, Buckingham, L-L, Clark, A, Cohen, W, Cowie, H, Dworzynski, K, Everitt, A, Goodyer, IM, Hennessy, E, Kindley, AD, Miller, LL, Nasir, J, O'Hare, A, Shaw, D, Simkin, Z, Simonoff, E, Slonims, V, Watson, J, Ragoussis, J, Fisher, SE, Seckl, JR, Helms, PJ, Bolton, PF, Pickles, A, Conti-Ramsden, G, Baird, G, Bishop, DVM & Monaco, AP 2009, 'CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment' American Journal of Human Genetics, vol 85, no. 2, pp. 264-272. DOI: 10.1016/j.ajhg.2009.07.004
Dennis, MY, Paracchini, S, Scerri, TS, Prokunina-Olsson, L, Knight, JC, Wade-Martins, R, Coggill, P, Beck, S, Green, ED & Monaco, AP 2009, 'A common variant associated with dyslexia reduces expression of the KIAA0319 gene' PLoS Genetics, vol 5, no. 3, e1000436. DOI: 10.1371/journal.pgen.1000436