Trinity College Dublin, (Ireland) Development of genotyping methodologies

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Curriculum Vitae PERSONAL INFORMATION Ricardo Segurado WORK EXPERIENCE November 1997 November 2000 Research Assistant Part-time; DNA extraction from blood; DNA sequencing & genotyping; data analysis

2005 August 2007 Postdoctoral fellow Cardiff university, (United Kingdom) Gene-mapping studies in psychiatry; development of pipelines for genome wide association studies; development of statistical

1 Curriculum Vitae PERSONAL INFORMATION Ricardo Segurado WORK EXPERIENCE November 1997 November 2000 Research Assistant Part-time; DNA extraction from blood; DNA sequencing & genotyping; data analysis November 2000 November 2002 Research Assistant Development of genotyping methodologies November 2002 August 2005 Postdoctoral fellow Gene-mapping studies in childhood psychiatric disorders September 2005 August 2007 Postdoctoral fellow Cardiff university, (United Kingdom) Gene-mapping studies in psychiatry; development of pipelines for genome wide association studies; development of statistical genetic methods for combining studies (meta-analysis); statistical consulting; lecturing (statistics, genetics) September 2007 December 2010 HRB Postdoctoral Research Fellow Development of statistics to detect epistatic and heterogeneous effects in complex genetic disorders; statistical consulting; lecturing (statistics) January 2011 August 2011 Statistical consultant Self, (Ireland) Consultancy work in study design and statistical analysis; training courses (statistics) September 2011 Present Biostatistical consultant University College Dublin, (Ireland) Advice on study design; power and sample size calculations; training in statistical analysis methods; data analysis; lecturing (statistics, study design, critical appraisal, genetic epidemiology) 8/7/14 European Union, Page 1 / 5

2 EDUCATION AND TRAINING September 1993 May 1997 BA Biochemistry November 1997 October 2002 PhD Molecular and statistical genetics September 1999 April 2000 Postgraduate diploma Statistics ADDITIONAL INFORMATION Expertise Biostatistics, sample size and power calculations, randomised controlled trials, crossover designs, cluster designs, survival analysis, epidemiology, genetics. Publications Peer-reviewed journals O Connor C, Doolan A, O Higgins A, Segurado R, Turner MJ, Stuart B, Kannelly MM (2014). Fetal subcutaneous tissue measurements in pregnancy as a predictor of neonatal total body composition. Prenat Diag [Epub] doi: /pd.4400 O Connor C, O Higgins A, Segurado R, Turner MJ, Stuart B, Kennelly MM (2014). Maternal body composition and birth weight. Prenat Diag 34(6): Roy AK, McCullagh BN, Segurado R, McGorrian C, Keane E, Keaney J, Fitzgibbon MN, Mahon NG, Murray PT, Gaine SP (2014). Detection of high-sensitivity troponin in outpatients with stable pulmonary hypertension identifies a subgroup at higher risk of adverse outcomes. J Card Fail 20(1):31-37 O'Sullivan KE, Gough A, Segurado R, Barry M, Sugrue D, Hurley J (2014). Is valve choice a significant determinant of paravalular leak post-transcatheter aortic valve implantation? A systematic review and meta-analysis. Eur J Cardiothorac Surg 45(5): O'Connor C, Farah N, O'Higgins A, Segurado R, Fitzpatrick C, Turner MJ, Stuart B, Kennelly MM (2013). Longitudinal measurement of fetal thigh soft tissue parameters and its role in the prediction of birth weight. Prenat Diagn 33(10): Ryan MF, Grada CO, Morris C, Segurado R, Walsh MC, Gibney ER, Brennan L, Roche HM, Gibney MJ (2013). Within-person variation in the postprandial lipemic response of healthy adults. Am J Clin Nutr 97(2):261-7 Babar M, Ryan AW, Anderson LA, Segurado R, Turner G, Murray LJ, Murphy SJ, Johnston BT, Comber H, Reynolds JV, McManus R (2012). Genes of the interleukin-18 pathway are associated with susceptibility to Barrett's esophagus and esophageal adenocarcinoma. Am J Gastroenterol 107(9): Badner JA, Koller D, Foroud T, Edenberg H, Nurnberger JI Jr, Zandi PP, Willour VL, McMahon FJ, Potash JB, Hamshere M, Grozeva D, Green E, Kirov G, Jones I, Jones L, Craddock N, Morris D, Segurado R, Gill M, Sadovnick D, Remick R, Keck P, Kelsoe J, Ayub M, MacLean A, Blackwood D, Liu CY, Gershon ES, McMahon W, Lyon GJ, Robinson R, Ross J, Byerley W (2012). Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. Mol Psychiatry 17(8): Segurado R, Bellgrove MA, Manconi F, Gill M, Hawi Z (2011). Epistasis between neurochemical gene 8/7/14 European Union, Page 2 / 5

3 polymorphisms and risk for ADHD. European Journal of Human Genetics 19(5): Heron EA, O'Dushlaine C, Segurado R, Gallagher L, Gill M (2011). Exploration of empirical Bayes hierarchical modeling for the analysis of genome-wide association study data. Biostatistics, epub Jan 20th. Bridges M, Heron EA, O'Dushlaine C, Segurado R, The International Schizophrenia Consortium (ISC), Morris D, Corvin A, Gill M, Pinto C (2010). Genetic classification of populations using supervised learning. PLoS One 6(5): e14802 O'Dushlaine C, Kenny E, Heron EA, Segurado R, Gill M, Morris DW, Corvin A (2009). The SNP ratio test: pathway analysis of genome-wide association datasets. Bioinformatics 25(20): Li Y, Grupe A, Rowland C, Holmans P, Segurado R, Abraham R, Jones L, Catanese J, Ross D, Mayo K, Martinez M, Hollingworth P, Goate A, Cairns NJ, Racette BA, Perlmutter JS, O'Donovan MC, Morris JC, Brayne C, Rubinsztein DC, Lovestone S, Thal LJ, Owen MJ, Williams J (2008). Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease. Human Molecular Genetics 17(5): Jones I, Hamshere M, Nangle JM, Bennett P, Green E, Heron J, Segurado R, Lambert D, Holmans P, Corvin A, Owen M, Jones L, Gill M, Craddock N (2007). Bipolar affective puerperal psychosis: genome-wide significant evidence for linkage to chromosome 16. American Journal of Psychiatry 164(7): Norton N, Williams HJ, Dwyer S, Carroll L, Peirce T, Moskvina V, Segurado R, Nikolov I, Williams NM, Ikeda M, Iwata N, Owen MJ, O'Donovan MC (2007). Association analysis of AKT1 and schizophrenia in a UK case control sample. Schizophrenia Research 93(1-3):58-65 Grupe A, Abraham R, Li Y, Rowland C, Hollingworth P, Morgan A, Jehu L, Segurado R, Stone D, Schadt E, Karnoub M, Nowotny P, Tacey K, Catanese J, Sninsky J, Brayne C, Rubinsztein D, Gill M, Lawlor B, Lovestone S, Holmans P, O'Donovan M, Morris JC, Thal L, Goate A, Owen MJ, Williams J (2007). Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. Human Molecular Genetics 16(8): Segurado R, Hawi Z, Gill M (2006). Reply to Joober and Sengupta. American Journal of Human Genetics 79(4): Hawi Z, Segurado R, Conroy J, Sheehan K, Lowe N, Kirley A, Shields D, Fitzgerald M, Gallagher L, Gill M (2005). Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder. American Journal of Human Genetics 77(6): Segurado R, Conroy J, Meally E, Fitzgerald M, Gill M, Gallagher L (2005). Confirmation of Association Between Autism and the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene on Chromosome 2q31 American Journal of Psychiatry 162(11): Hamshere ML, Bennett P, Williams N, Segurado R, Cardno A, Norton N, Lambert D, Williams H, Kirov G, Corvin A, Holmans P, Jones L, Gill M, O Donovan MC, Owen MJ, Craddock N (2005). Genomewide linkage scan in schizoaffective disorder: significant evidence for linkage at 1q42 close to DISC1, and suggestive evidence at 22q11 and 19p13. Archives of General Psychiatry 62(10): McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Abou Jamra R, Albus M, Bacanu S-A, Baron M, Barrett TB, Berrettini W, Blacker D, Byerley W, Cichon S, Coryell W, Craddock N, Daly M, DePaulo JR, Edenberg HJ, Foroud T, Gill M, Gilliam TC, Hamshere M, Jones I, Jones L, Juo S-H, Kelsoe JR, Lambert D, Lange C, Lerer B, Liu J, Maier W, MacKinnon JD, McInnis MG, McMahon FJ, Murphy DL, Nöthen MM, Nurnberger JI Jr., Pato CN, Pato MT, Potash JB, Propping P, Pulver AE, Rice JP, Rietschel M, Scheftner W, Schumacher J, Segurado R, Van Steen K, Xie W, Zandi P, Laird NM (2005). Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. American Journal of Human Genetics 77(4): Lambert D, Middle F, Hamshere ML, Segurado R, Raybould R, Corvin A, Green E, O Mahony E, Nikolov I, Mulcahy T, Haque S, Bort S, Bennett P, Norton N, Owen MJ, Kirov G, Lendon C, Jones L, Jones I, Holmans P, Gill M, Craddock N (2005). Stage 2 of the Wellcome Trust UK-Irish bipolar affective disorder sibling-pair genome screen: evidence for linkage on chromosomes 6q16-q21, 4q12- q21, 9p21, 10p14-p12 and 18q22. Molecular Psychiatry 10(9): Levinson DF, Levinson MD, Segurado R, Lewis CM (2003). Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, part I: Methods and Power Analysis. American Journal of Human Genetics 73(1):17-33 Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI Jr, Craddock N, et al. (2003). Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, part III: Bipolar disorder. American Journal of Human Genetics 73(1):49-62 Bennett P, Segurado R, Jones I, Bort S, McCandless F, Lambert D, Heron J, Comerford C, Middle F, 8/7/14 European Union, Page 3 / 5

4 Corvin A, Pelios G, Kirov G, Larsen B, Mulcahy T, Williams N, O Connell R, O Mahony E, Payne A, Owen M, Holmans P, Craddock N, Gill M (2002). The Wellcome trust UK-Irish bipolar affective disorder sibling-pair genome screen: first stage report. Molecular Psychiatry 7: Campbell VA, Segurado R, Lynch MA (1998). Regulation of Intracellular Ca2+ concentration by interleukin-1-beta in rat cortical synaptosomes: an age-related study. Neurobiology of Aging 19(6): Consortium Papers: Anney R, et al (2010): A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics 19(20): Pinto D, et al. (2010):Functional Impact of global rare copy number variation in autism spectrum disorders. Nature 466(7304): Workshop proceedings Genetic Analysis Workshop 15, 2006, St Pete s Beach, Florida, U.S.A.: Glaser B, Nikolov I, Chubb D, Hamshere ML, Segurado R, Moskvina V, Holmans PA (2007). Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests. BMC Proc.1 Suppl 1:S54 Segurado R, Hamshere ML, Glaser B, Nikolov I, Moskvina V, Holmans, PA (2007). Combining linkage data sets for meta-analysis and mega-analysis: the GAW15 rheumatoid arthritis data set. BMC Proc.1 Suppl 1:S104 Hamshere ML, Segurado R, Moskvina V, Nikolov I, Glaser B, Holmans PA (2008). Large-scale linkage analysis of 1302 affected relative pairs with rheumatoid arthritis. BMC Proc.1 Suppl 1:S100 Book Chapters "ADHD, Autism Spectrum Disorders and Tourette's Syndrome: Investigating the evidence for Clinical and Genetic overlap", Louise Gallagher, Mark A Bellgrove, Ziarah Hawi, Ricardo Segurado, Michael Fitzgerald; in Handbook of Attention Deficit Hyperactivity Disorder, John Wiley & Sons, Chichester, Projects Grants awarded 2006 HRB (Ireland) Postdoctoral Research Fellowship - Multi-locus approaches to susceptibility genes for autism: Epistasis and Heterogeneity (c. 39,000 + salary) 2005 HRB (Ireland) Equipment Grant (with Dr. Ziarah Hawi): ABI 7900HT Sequence Detection system (c. 130,000) Research Projects Wellcome Trust UK/Ireland Bipolar Disorder Affected Sib-Pair Collaborative Study (Research assistant; PhD studentship) Autism Genetics Project collaborative initiative (postdoctoral fellow) Lifeways Cross-generation Cohort Study (statistician) NILVAD: Phase III RCT of nilvadipine in mild/moderate Alzheimer's disease (statistician) Memberships Fellow of Royal Statistical Society Member of International Genetic Epidemiology Society Founding member of Wales & Ireland Genetic Epidemiology Group Conference presentations (as presenting author) VIth World Congress of Psychiatric Genetics, Bonn 1998 Poster presentation: " Manic Depression and Tyrosine Hydroxylase: a linkage and association study" VIIth World Congress of Psychiatric Genetics, Monterey, 1999 Oral presentation: "The Wellcome Trust UK-Irish Bipolar Sib-pair genome screen: first stage report: chromosomes 2, 5, 6, 8, 9, 10, 11, 17, 18, 19, 20, 21, 22" VIIIth World Congress of Psychiatric Genetics, Paris, 2000 Oral presentation: "The Wellcome Trust UK/Ireland Bipolar sibling pair study: complete first stage genome scan for Bipolar Affective Disorder: chromosomes 2, 5, 6, 9, 10, 11, 17, 18, 19, 20, 21 and 22" 8/7/14 European Union, Page 4 / 5

5 IXth World Congress of Psychiatric Genetics, St. Louis, 2001 Poster presentation: "Genome-wide genetic linkage studies in Bipolar Disorder: a review" Xth World Congress of Psychiatric Genetics, Belgium, 2002 Special Plenary lecture: "Meta-analysis of genome scans for bipolar disorder" Other Relevant Information 8/7/14 European Union, Page 5 / 5

Suggestive Linkage at 9p22 in Bipolar Disorder Weighted by Alcohol Abuse

BRIEF RESEARCH COMMUNICATION Suggestive Linkage at 9p22 in Bipolar Disorder Weighted by Alcohol Abuse Erika F.H. Saunders, 1,2,3 * Peng Zhang, 4 J. Nathan Copeland, 5 Melvin G. Mclnnis, 1,2 and Sebastian