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Researchers at UCD

Jillian Casey

School of Medicine

Tel:
Email: jillian.casey@ucd.ie

Biography

Dr Jillian Casey is a Research Associate at Temple Street Children's University Hospital, and an Associated Member of the UCD Academic Centre on Rare Diseases. She was awarded her PhD in Medical Genetics from University College Dublin where her research studies were in the area of rare pediatric genetic disorders.

Dr Casey believes that identification of the genetic causes of rare disorders in the Irish population is the first step in translating basic health research to the bedside.  As a result of her studies, new disease genes for a variety of rare disorders have been identified using next-generation sequencing approaches in Irish families including;

  • developmental delay syndromes
  • micro-anophthalmia (small or absent eyes)
  • childhood liver failure
  • primary ciliary dyskinesia (respiratory disorder)
  • immunodeficiency syndromes

Her current studies involve genetic analysis of families with rare uncharacterised disorders including congenital malformations, developmental disorders and metabolic conditions.

Dr Casey engages in translational research through the development and clinical validation of new genetic tests to enable earlier diagnosis and intervention for children with rare disorders. She is also co-lead on dissemination projects which aim to strengthen and integrate genetics into primary health care to support those providing multidisciplinary care for people with heritable disorders. 

 
Relevant Links:
http://www.ucd.ie/medicine/rarediseases/
https://www.youtube.com/watch?v=vbGw4VanNjk
https://www.youtube.com/watch?v=MLDCJ2gUC84
https://www.youtube.com/watch?v=wylthWcWRgY
https://www.youtube.com/watch?v=_oVvTkjDm6g
https://www.youtube.com/watch?v=yANF0bxHpzU
https://www.youtube.com/watch?v=Vdam8pKhRNo

Professional

Honours and Awards

Year: 2015.
Title: Best Researcher Award, Irish Paediatric Association Conference (Limerick)
Year: 2014.
Title: Best platform presentation, Children's University Hospital Research Day (Dublin)
Year: 2014.
Title: Best poster award, Joint North South Rare Disease Day (Belfast)
Year: 2013.
Title: Best platform presentation, British Inherited Metabolic Diseases Group Conference (London)
Year: 2012.
Title: Best postdoctoral platform presentation, Irish Society of Human Genetics (Dublin)
Year: 2012.
Title: Poster award candidate, European Society of Human Genetics (Nurnberg Germany)
Year: 2011.
Title: Best platform presentation, Children's University Hospital Research Day (Dublin)
Year: 2011.
Title: Best platform presentation, Our Lady's Children's Hospital Research Day (Dublin)
Year: 2011.
Title: Young investigator finalist, European Society of Human Genetics (Amsterdam)
Year: 2010.
Title: Poster award finalist, European Society of Human Genetics (Gothenburg Sweden)
Year: 2009.
Title: Best postgraduate platform presentation, Irish Society of Human Genetics (Dublin)
Year: 2009.
Title: Young Investigator Award, Irish Society of Human Genetics (Dublin)
       

Conference Contributions

Casey, J; Crushell, E; Hughes, J; Cox, D; Elnazir, B; White, M; Dorkins, H; Ennis, S; Murphy, H; Lynch, SA (2014) Known knowns, known unknowns and unknowns unknowns ¿ the challenges of exome data analysis. [Oral Presentation], Temple Street Children's University Hospital Research and Audit Day, Temple Street Children's University Hospital, Dublin, Ireland , 20-JUN-14 - 20-JUN-14.
Casey, J (2014) An exome-sequencing based look at rare metabolic disorders. [Invited Lecture], Royal College of Physicians Metabolic Masterclass, Royal College of Physicians, Dublin, Ireland , 13-JUN-14 - 13-JUN-14.
J. Casey, P. McGettigan, E. Crushell, D. Slattery, A. Green, S. Ennis, S.A. Lynch. (2014) Behind the scenes: The hidden challenges of exome sequencing in consanguineous populations. [Poster Presentation (Refereed)], European Society of Human Genetics, Milan, Italy , 31-MAY-14 - 03-JUN-14.
J. Casey, R. O' Shea, J. Turner, A. Ward, M. Byrne, S.A. Lynch. (2014) Improving patient care through translation and education. [Poster Presentation], Joint North South Northern Ireland Rare Disease Partnership Conference, Riddel Hall, Belfast, Northern Ireland , 28-FEB-14 - 28-FEB-14.
J Casey (2014) The impact of Next-Generation Sequencing technology on finding rare disease genes in the Irish and Irish Traveller populations. [Invited Lecture], UCC School of Biochemistry and Cell Biology Seminar Series, University College Cork, Cork, Ireland , 28-JAN-14 - 28-JAN-14.
J. Casey, P. McGettigan, E. Crushell, D. Slattery, A. Green, S. Ennis, S.A. Lynch. (2014) Lessons learned from Next-Gen studies in a consanguineous population. [Oral Presentation], Genomic Disorders 2014: The Genomics of Rare Diseases, Cambridge, London, UK , 05-MAR-14 - 07-MAR-14.
SA Lynch, R. O' Shea, J. Turner, A. Ward, M. Byrne, J. Casey. (2014) New approaches to bridge the gap between research and primary health care in Ireland. [Oral Presentation], European Society of Human Genetics, Milan, Italy , 31-MAY-14 - 03-JUN-14.
J Casey (2013) Discovering new disease genes in the Irish population ¿ How we do it and why it is relevant to GPs. [Invited Oral Presentation], Genetics in Health Care, Sligo General Hospital, Ireland , 13-NOV-13 - 13-NOV-13.
J Casey (2013) Discovering new disease genes in the Irish population ¿ How we do it and why it is relevant to GPs. [Invited Oral Presentation], Genetics in Health Care, Mullingar Park Hotel, Ireland , 05-DEC-13 - 05-DEC-13.
J Casey (2013) Discovering new disease genes in the Irish population ¿ How we do it and why it is relevant to GPs. [Invited Oral Presentation], Genetics in Health Care, Belfast Royal Victoria Hospital, Northern Ireland , 21-NOV-13 - 21-NOV-13.
J. Casey, H. Murphy, S. Ennis, S.A. Lynch. (2013) The Microcephaly Mystery: Complications of disease gene identification in a consanguineous population. [Oral Presentation], Irish Society of Human Genetics, Belfast City Hospital, Northern Ireland , 06-SEP-13 - 06-SEP-13.
J. Casey, N. Lynam-Lennon, P. McGettigan, J. O¿ Sullivan, M. McDermott, SMC. Slattery, K. Forde, A.A. Monavari, I. Knerr, J. Hughes, B. Bourke, S. Ennis, S.A. Lynch, E. Crushell. (2013) Recessive mutations in LARS cause a multisystem disorder with infantile liver failure, recurrent hepatopathy, anaemia and epilepsy. [Oral Presentation], International Congress of Inborn Errors of Metabolism, Barcelona, Spain , 03-SEP-13 - 06-SEP-13.
J. Casey, P. McGettigan, E. Crushell, D. Slattery, A. Green, S. Ennis, S.A. Lynch. (2013) An insight into disease genes and clan structure in the Irish Traveller population. [Oral Presentation], 34th Annual David W. Smith Workshop in Malformations and Morphogenesis, Mont Tremblant, Quebec, Canada , 09-AUG-13 - 14-AUG-13.
S.A. Lynch, H. Murphy, P. McGettigan, S. Ennis, J. Casey. (2013) Searching for microcephaly genes amongst an endogamous Irish population. [Oral Presentation], 34th Annual David W. Smith Workshop in Malformations and Morphogenesis, Mont Tremblant, Quebec, Canada , 09-AUG-13 - 14-AUG-13.
D. Slattery, P. McGettigan, A. Reynolds, B.N. Kennedy, S. Ennis, S.A. Lynch, J. Casey. (2013) Surprising genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. [Poster Presentation (Refereed)], European Society of Human Genetics, Paris, France , 08-JUN-13 - 11-JUN-13.
J Casey, N. Lynam-Lennon, P. McGettigan, J. O¿ Sullivan, M. McDermott, SMC. Slattery, K. Forde, A.A. Monavari, I. Knerr, J. Hughes, B. Bourke, S. Ennis, S.A. Lynch, E. Crushell. (2013) LARS and the liver; an unexpected relationship. [Invited Oral Presentation], Joint Belfast-Dublin Clinical Genetics Meeting, Newry, Northern Ireland , 26-JUN-13 - 26-JUN-13.
J. Casey, P. McGettigan, D. Brosnahan, E. Treacy, S. Ennis, S.A. Lynch. (2013) Exome sequencing confirms diagnosis where previous diagnostic testing was negative. [Oral Presentation], Our Lady's Children's Hospital Research and Audit Day, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland , 24-MAY-13 - 24-MAY-13.
J. Casey, A. Green, D. Slattery, E. Crushell, S. Ennis, S.A. Lynch. (2013) Rare disease gene identification and its translation. [Oral Presentation], Temple Street Children's University Hospital Clinical Research in Rare Disease Day, Temple Street Children's University Hospital, Dublin, Ireland , 01-MAR-13 - 01-MAR-13.
S.M.C. Slattery and J. Casey, N. Lynam-Lennon, P. McGettigan, J. O' Sullivan, M. McDermott, K. Forde, M. Cotter, A.A. Monavari, I. Knerr, J. Hughes, B. Bourke, S. Ennis, S.A. Lynch, E. Crushell. (2013) Clinical phenotype associated with recessive mutations in LARS. [Oral Presentation], Temple Street Children's University Hospital Research and Audit Day, Children's University Hospital, Dublin, Ireland , 06-DEC-13 - 06-DEC-13.
J. Casey, P. McGettigan, D. Slattery, E. Crushell, S. Ennis, A. McCann, S.A. Lynch. (2013) The impact of identifying rare disease genes on patient health. [Oral Presentation], National Children's Research Centre Research Symposium, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland , 02-DEC-13 - 03-DEC-13.
J Casey, R O' Shea, A Ward, J Turner, SA Lynch (2013) [Conference Organising Committee Member], Genetics in Health Care, Cork, Sligo, Mullingar and Belfast , 10-OCT-13 - 18-DEC-13.
R. O' Shea, J. Turner, A. Ward, M. Byrne, J. Casey, S.A. Lynch. (2013) Rare disease knowledge exchange and dissemination project. [Poster Presentation], Rare Disorders without Borders Conference, Dublin City Hall, Dublin, Ireland , 28-FEB-13 - 28-FEB-13.
J. Casey, A. Green, P. McGettigan, J. Conroy, R. Regan, S. Ennis, S.A. Lynch. (2013) Next Generation Diagnostics: Getting to the root cause of rare disorders in the Irish population. [Poster Presentation], Rare Disorders without Borders Conference, Dublin City Hall, Dublin, Ireland , 28-FEB-13 - 28-FEB-13.
R. O' Shea, J. Turner, A. Ward, J. Casey, M. Byrne, S.A. Lynch. (2013) From bench to beside: Education of general practitioners and midwives about rare disease gene discovery and knowledge dissemination for their practice. [Poster Presentation (Refereed)], Our Lady's Children's Hospital Research and Audit Day, Our Lady's Children's Hospital, Dublin, Ireland , 24-MAY-13 - 24-MAY-13.
S.A. Lynch, H. Murphy, S. Ennis, J. Casey. (2013) Searching for microcephaly genes amongst an endogamous population. [Poster Presentation (Refereed)], European Society of Human Genetics, Paris, France , 08-JUN-13 - 11-JUN-13.
J Casey (2013) Discovering new disease genes in the Irish population ¿ How we do it and why it is relevant to GPs. [Invited Oral Presentation], Genetics in Health Care, Cork University Maternity Hospital , 10-OCT-13 - 10-OCT-13.
J. Casey, P. McGettigan, C. Keohane, E. Dempsey, D. McKenna, T.J. Browne, N. Birmingham, S.A. Lynch, A. Green, S. Ennis. (2013) Investigation into the genetic basis of holoprosencephaly- diencephalic hypothalamic hamartoma. [Poster Presentation (Refereed)], European Society of Human Genetics, Paris, France , 08-JUN-13 - 11-JUN-13.
S.A. Lynch, A. Ward, J. Turner, M. Byrne, J. Casey. (2013) KEDS: Disseminating knowledge and educating health care professionals about new developments in Genetic research in Ireland. [Poster Presentation (Refereed)], Irish Society of Human Genetics, Belfast Hospital, Northern Ireland , 06-SEP-13 - 06-APR-13.
J. Casey, A. Green, P. McGettigan, J. Conroy, R. Regan, S. Ennis, S.A. Lynch. (2013) Getting to the root cause of rare disorders in the Irish population. [Poster Presentation], Medical Research Charities Group Conference, Rotunda Hospital, Dublin, Ierland , 12-NOV-13 - 12-NOV-13.
S.A. Lynch, A. Ward, J. Turner, M. Byrne, J. Casey. (2013) KEDS: Disseminating knowledge and educating health care professionals about new developments in Genetic research in Ireland. [Poster Presentation], Medical Research Charities Group Conference, Rotunda Hospital, Dublin, Ireland , 12-NOV-13 - 12-NOV-13.
J. Casey, N. Lynam-Lennon, P. McGettigan, J. O¿ Sullivan, M. McDermott, SMC. Slattery, K. Forde, A.A. Monavari, I. Knerr, J. Hughes, B. Bourke, S. Ennis, S.A. Lynch, E. Crushell. (2013) Exome sequencing implicates LARS in a multisystem disorder with infantile liver failure, recurrent hepatopathy, anaemia and epilepsy. [Oral Presentation], British Inherited Metabolic Diseases Group Conference, London, UK , 04-JUL-13 - 05-JUL-13.
J. Casey, M. Nobbs, P. McGettigan, SA. Lynch, S. Ennis. (2012) A single mutation that affects two genes; MCM4 and PRKDC cause a primary immunodeficiency, disorder of DNA repair and familial glucocorticoid deficiency. [Oral Presentation], Our Lady's Children's Hospital Research and Audit Day, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland , 25-MAY-12 - 25-MAY-12.
S.A. Lynch, J. Turner, S. Ennis, J. Casey. (2012) Making matches- linking large Irish Traveller pedigrees to; a) aid with disease gene identification & b) understand the demographics of this endogamous community. [Oral Presentation], Irish and American Paediatric Society Meeting, Belfast, Northern Ireland , 26-SEP-12 - 30-SEP-12.
J. Casey, P. McGettigan, N. Alkazemi, P. Maguire, B. Kennedy, D. Brosnahan, E. Treacy, K. Walsh, S. Ennis, SA. Lynch. (2012) Exome analysis and cardiomyopathy: The Lazarus story. [Oral Presentation], Irish Society of Human Genetics, Dublin, Ireland , 03-SEP-12 - 10-SEP-12.
J Casey (2012) What's in a genome?. [Invited Lecture], Dublin City of Science / ESOF 2012 public event 'Your Genes, Your Health, Your Future', Royal College of Surgeons, Dublin, Ireland , 03-SEP-12 - 03-SEP-12.
J Casey (2012) Your genome and the Next Generation. [Invited Lecture], Retina 2012 Patient Engagement Day, Certus, Dublin, Ireland , 10-NOV-12 - 10-NOV-12.
J. Casey, P. McGettigan, B. Kennedy, S. Ennis, A. McCann, SA. Lynch. (2012) Identification of recessive disease genes for primary ciliary dyskinesia, microcephaly and dilated cardiomyopathy. [Oral Presentation], National Children's Research Centre Symposium, National Children's Research Centre, Dublin, Ireland , 03-DEC-12 - 04-DEC-12.
J Casey (2012) Exome sequencing and the challenge of rare disorders. [Invited Oral Presentation], National Children's Research Centre Seminar Series, National Children's Research Centre, Dublin, Ireland , 17-JAN-12 - 17-JAN-12.
J. Casey, M. Nobbs, P. McGettigan, SA. Lynch, S. Ennis. (2012) Recessive mutations in MCM4/PRKDC cause a novel syndrome characterised by a primary immunodeficiency and impairments in DNA repair. [Poster Presentation (Refereed)], European Society of Human Genetics, Nurnberg, Germany , 23-JUN-12 - 26-JUN-12.
J. Casey, A. Green, P. McGettigan, J. Conroy, R. Regan, S. Ennis, SA. Lynch. (2012) An alternative approach to research: Technology driven research for rare disorders in the Irish population. [Poster Presentation], UK Clinical Research Facility Network Conference, Trinity College Dublin, Dublin, Ireland , 02-JUL-12 - 03-JUL-12.
SA. Lynch, J. Turner, S. Ennis, J. Casey. (2012) Making matches: Linking large Irish Traveller pedigrees to a) aid with disease gene identification and b) understand the demographics of this endogamous community. [Poster Presentation (Refereed)], Irish Society of Human Genetics, Royal College of Surgeons, Dublin, Ireland , 03-SEP-12 - 03-SEP-12.
J. Casey, A. Green, P. McGettigan, J. Conroy, R. Regan, S. Ennis, SA. Lynch. (2012) Next-generation diagnostics for rare disorders in the Irish population. [Poster Presentation (Refereed)], New Frontiers Symposium, Nijmegen, Netherlands , 03-DEC-12 - 04-DEC-12.
J. Casey, E. Crushell, J. Conroy, R. Regan, B. Bourke, SA. Lynch, S. Ennis. (2011) From research to genetic diagnosis: keeping up with the next-generation. [Oral Presentation], Temple Street Children's University Hospital Research and Audit Day, Temple Street Children's University Hospital , Dublin, Ireland , 08-JUL-11 - 08-JUL-11.
J. Casey, J. Conroy, R. Regan, E. Crushell, SA Lynch, S. Ennis. (2011) Identification of a novel disease gene for pediatric mitochondrial disease. [Oral Presentation], Irish Society of Human Genetics, University College Dublin, Dublin, Ireland , 14-SEP-11 - 14-SEP-11.
J. Casey, D. Slattery, J. Conroy, R. Regan, S. Ennis, SA. Lynch. (2011) Towards identification of a disease gene for primary ciliary dyskinesia. [Oral Presentation], Temple Street Children's University Hospital Research and Audit Day, Temple Street Children's University Hospital, Dublin, Ireland , 09-DEC-11 - 09-DEC-11.
J. Casey, R. Kawaguchi, M. Morrissey, H. Sun, P. McGettigan, J. Nielsen, J. Conroy, R. Regan, P. Tormey, M. Ní Chróinín, b. Kennedy, SA. Lynch, A. Green, S. Ennis. (2011) Adding a new dimension to the STRA6 phenotype. [Oral Presentation], Our Lady's Children's Hospital Research and Audit Day, Our Lady's Children's Hospital, Dublin, Ireland , 20-MAY-11 - 20-MAY-11.
J. Casey, R. Kawaguchi, M. Morrissey, H. Sun, P. McGettigan, J. Nielsen, J. Conroy, R. Regan, P. Tormey, M. Ní Chróinín, B. Kennedy, SA. Lynch, A. Green, S. Ennis. (2011) First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma. [Oral Presentation], European Society of Human Genetics, Amsterdam, Netherlands , 28-MAY-11 - 31-MAY-11.
J Casey (2011) [Invited Oral Presentation], GATC Symposium on Next and Third Generation Sequencing, London, UK , 21-JUN-11 - 21-JUN-11.
J. Casey, J. Conroy, R. Regan, N. Shah, SA. Lynch, A. Green, S. Ennis. (2010) Identification of a novel candidate disease locus for anophthalmia/microphthalmia by homozygosity mapping in an Irish Traveller family. [Poster Presentation (Refereed)], European Society of Human Genetics, Gotheburg, Sweden , 12-JUN-10 - 15-JUN-10.
J. Casey, J. Conroy, R. Regan, N. Shah, E. B. Crushell, SA. Lynch, S. Ennis. (2010) The use of whole exome sequencing and linkage analysis to identify novel candidate loci for pediatric mitochondrial disorder. [Oral Presentation], American Society of Human Genetics, Washington, USA , 02-NOV-10 - 06-NOV-10.
J. Casey, T. Magelhaes, J. Conroy, R. Regan, N. Shah, R. Anney, E. Heron, A. Green, L. Gallagher, M. Gill, D. Shields, A. Vicente, S. Ennis, Autism Genome Project. (2009) Genome-wide homozygous haplotype mapping to identify Autism Spectrum Disorder candidate genes. [Poster Presentation (Refereed)], American Society of Human Genetics, Honolulu, Hawaii , 20-OCT-09 - 24-OCT-09.
J. Casey, J. Conroy, R. Regan, N. Shah, T. Magelhaes, A. Green, SA. Lynch, S. Ennis. (2009) The use of SNP homozygosity mapping to identify disease genes in Irish families. [Oral Presentation], Irish Society of Human Genetics, Dublin College University, Dublin, Ireland , 18-SEP-09 - 18-SEP-09.
 

Employment

Employer: Children's University Hospital, Temple Street
Position: Research Associate
Employer: National Children's Research Centre, Our Lady's Children's Hospital, Crumlin
Position: Post-Doctoral Researcher
Employer: GATC Biotech, Konstanz, Germany
Position: Next-Generation Sequencing Technician
Employer: Centocor, Ringaskiddy, Cork, Ireland
Position: Quality Control Analyst

Education

Year 2007 Institution: University College Cork
Qualification: BSc Genetics Subject: Genetics
Year 2011 Institution: University College Dublin
Qualification: PhD Subject: Medical Genetics

Languages

Spanish:
       

Publications

Books

Casey J, O' Shea R, Turner J, Ward A, Byrne M, Lynch SA (2013) Guidelines for Primary Healthcare Professionals: Genetic Testing and Risk Assessment of Rare Disorders. Dublin: NCMG, UCD, NCRC. [Details]
   

Peer Reviewed Journals

Jillian P Casey, Patricia Goggin, Jennifer McDaid, Martin White, Sean Ennis, David R Betts, Jane S Lucas, Basil Elnazir, Sally Ann Lynch (2015) 'A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder'. BMC Medical Genetics, 16 (1):45-45. Available Online Link to full text [Details]
Casey; JP, Crushell, E; Thompson, K; Twomey, E; He, L; Ennis, S; Philip, RK; Taylor, RW; King, MD; Lynch, SA. (2015) 'Periventricular calcification, abnormal pterins and dry thickened skin: expanding the clinical spectrum of RMND1 ?'. Journal Of Inherited Metabolic Disease, . [Details]
Casey, JP, Støve SI; McGorrian, C; Galvin, J; Blenski, M; Dunne, A; Ennis, S; Brett, F; King, MD; Arnesen T; Lynch, SA (2015) 'NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment'. Scientific Reports, 5 . [Details]
Jillian P. Casey, Suzanne Slattery, Melanie Cotter, A. A. Monavari, Ina Knerr, Joanne Hughes, Eileen P. Treacy, Deirdre Devaney, Michael McDermott, Eoghan Laffan, Derek Wong, Sally Ann Lynch, Billy Bourke, Ellen Crushell (2015) 'Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS'. Journal Of Inherited Metabolic Disease, . Available Online Link to full text [Details]
Casey, J; McGettigan, P; Healy, F; Hogg, C; Reynolds, A; Kennedy, B; Ennis, S; Slattery, D; Lynch, SA. (2013) 'Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population'. European Journal of Human Genetics, . Available Online [DOI] Link to full text [Details]
Gadancheva VG, Casey JP, Russell JD, McDaid J, Betts DR, Lynch SA. (2014) 'Vocal cord paralysis in association with 9q34 duplication'. Clinical Dysmorphology, . [Details]
Casey, J; McGettigan, P; Brosnahan, D; Curtis, E; Treacy, E; Ennis, S; Lynch, SA. (2014) 'Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria'. European Journal of Medical Genetics, 57 (2-3):55-59. Available Online [DOI] Link to full text [Details]
Conlon PJ, O'Brien RP, Phelan PJ, Conroy J, O'Kelly P, Green A, Keogan M, O'Neill D, Jennings S, Traynor C, Casey J, McCormack M, Conroy R, Chubb A, Ennis S, Shields DC, Cavalleri GL (2013) 'A genome-wide association study of recipient genotype and medium-term kidney allograft function'. Clinical Transplantation, 27 (3):379-387. [DOI] [Details]
Casey J, Nobbs M, McGettigan P, Lynch SA, Ennis S. (2012) 'Recessive mutations in MCM4/PRKDC cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair'. Journal of Medical Genetics, 49 (4):242-245. Link to full text [Details]
R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, S Bölte, PF Bolton, T Bourgeron, S Brennan, J Brian, J Casey, J Conroy, C Correia, C Corsello, EL Crawford, M de Jonge, R Delorme, E Duketis, F Duque, A Estes, P Farrar, BA Fernandez, SE Folstein, E Fombonne, J Gilbert, C Gillberg, JT Glessner, A Green, J Green, SJ Guter, EA Heron, R Holt, JL Howe, G Hughes, V Hus, R Igliozzi, S Jacob, GP K, C Kim, A Kolevzon, V Kustanovich, CM Lajonchere, JA Lamb, M Law-Smith, M Leboyer, A Le Couteur, BL Leventhal, XQ Liu, F Lombard, C Lord, L Lotspeich, SC Lund, TR Magalhaes, C Mantoulan, CJ McDougle, NM Melhem, A Merikangas, NJ Minshew, GK Mirza, J Munson, C Noakes, K Papanikolaou, AT Pagnamenta, B Parrini, T Paton, A Pickles, DJ Posey, F Poustka, J Ragoussis, R Regan, K Renshaw, W Roberts, K Roeder, B Roge, ML Rutter, S Schlitt, N Shah, VC Sheffield, L Soorya, I Sousa, V Stoppioni, N Sykes, R Tancredi, AP Thompson, S Thomson, A Tryfon, J Tsiantis, H Van Engeland, JB Vincent, F Volkmar, JAS Vorstman, S Wallace, K Wing, K Wittemeyer, S Wood, D Zurawiecki, L Zwaigenbaum, AJ Bailey, A Battaglia, RM Cantor, H Coon, ML Cuccaro, G Dawson, S Ennis, CM Freitag, DH Geschwind, JL Haines, SM Klauck, WM McMahon, E Maestrini, J Miller, AP Monaco, SF Nelson, JI Nurnberger Jr., G Oliveira, JR Parr, MA Pericak-Vance, J Piven, GD Schellenberg, SW Scherer, AM Vicente, TH Wassink, EM Wijsman, C Betancur, JD Buxbaum, EH Cook, L Gallagher, M Gill, J Hallmayer, AD Paterson, JS Sutcliffe, P Szatmari, VJ Vieland, H Hakonarson, B Devlin. (2012) 'Individual common variants exert weak effects on risk for Autism Spectrum Disorders'. Human Molecular Genetics, 21 (21):4781-4792. [Details]
Casey J, Magalhaes T, Conroy J, Regan R, Shah N, Anney R, Shields D, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan A, Cali P, Correia A, Corsello A, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SA, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter JT, Hakonarson H, Holt R, Hughes G, Hus A, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JAS, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind SH, Haines JL, Hallmayer J, Monaco AP, Nurnberger Jr. JI, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland V, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S. (2012) 'A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder'. Human Genetics, 131 (4):565-579. Link to full text [Details]
Casey J, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O¿ Sullivan J, Crushell E, Lynch SA, Ennis S. (2012) 'Identification of a mutation in LARS as a novel cause of infantile hepatopathy'. Molecular Genetics and Metabolism, 106 (3):351-358. Link to full text [Details]
TR Magalhães, JP Casey, J Conroy, R Regan, DJ Fitzpatrick, N Shah, J Sobral, S Ennis. (2012) 'HGDP and HapMap Analysis by Ancestry Mapper reveals local and global population relationships'. PLoS ONE, 7 (11). [Details]
Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Ní Chróinín M, Kennedy BN, Lynch SA, Green A, Ennis S. (2011) 'First implication of STRA6 mutations in isolated anophthalmia, microphthalmia and coloboma: a new dimension to the STRA6 phenotype'. Human Mutation, 32 (12). Link to full text [Details]
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Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. (2010) 'Functional impact of global rare copy number variation in autism spectrum disorders'. Nature, 466 :368-72. [Details]
Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J. (2010) 'A genome-wide scan for common alleles affecting risk for autism'. Human Molecular Genetics, 19 (20):4072-4082. [Details]
                                                                                             

Research

Research Interests

My main areas of research interest are in the genomics of rare pediatric disorders and the implementation of cutting-edge technologies to support personalised healthcare.

A 'rare disease' is defined as a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000. It is estimated that up to 300,000 people in Ireland are currently affected by a rare health condition. Therefore, while individually rare, collectively, rare disorders represent a significant health challenge.  

As Ireland is a genetic isolate, many rare disorders in Irish families are caused by genetic alterations that are limited to the Irish population or even unique to individual families. Therefore, the only way we are going to identify the spectrum of rare disease genes in the Irish population is to do research on an individual family basis. It has recently become possible to identify rare disease genes in as few as a single patient using Next-Generation sequencing technology.
 

My work and interest in the genomics of rare disorders began during my PhD, researching the contribution of rare genetic variants to both Mendelian and complex disorders with Dr Sean Ennis (Medical Genomics Research Group, UCD). I continued my work on the genomics of rare disorders during my post-doctoral studies with Dr Sally Ann Lynch (National Centre for Medical Genetics and Temple Street Children's University Hospital). I continue to work very closely with clinicians, nationally and internationally, on the genetic characterisation of rare pediatric disorders.


My current work focuses on elucidating rare and undiagnosed Mendelian disorders affecting children by implementing a personalised genomics approach. This typically involves the use of whole exome sequencing and advanced data analysis. We study a variety of disorders including congenital malformations, respiratory diseases, metabolic disorders and neurological conditions. No disease is too rare for research.

This research is critical to:
  - understand the pathophysiology of rare diseases
  - develop improved diagnostic tools for accurate and timely diagnosis
  - facilitate early intervention
  - guide the development of new treatments and therapies