9:30 Registration/poster viewing

10:00 Welcome, greetings and Introduction to first speaker
10:05 Keynote address I: “An update on The National Genetics and Genomics Strategy for Ireland” Dr Mark Bale, Advisor and Lead for the National Strategy for Genetics and Genomics for Ireland
10:35 Update from the IPPOSI Citizen Jury on Genetics and Genomics
10:50 Keynote address II: “Interpreting variation in the non-coding genome” Prof Nicola Whiffin, Wellcome Centre for Human Genetics, University of Oxford

11:35-12:00 Coffee break/poster viewing (Poster presenters 1-22)

12:00-13:00 Oral presentations (Clinical) Plenary I

  1. “The odyssey continues: A ‘deep dive’ into NI’s 100,000 Genomes Project undiagnosed”
    Caoimhe McKenna, Katie Kerr, Diya Thomas, Shirley Heggarty, William Wright, Rosalind Martin, Padraig Hart, Gillian Rea, Lisa Soeters, Cheryl Flanagan, Shane McKee, Amy Jayne McKnight
  2. “By hook or by crook – Proving the diagnosis of Mosaic trisomy 16”
    Karl Kavanagh, Shauna Quinn, Bronagh O’Hici, Janna Kenny
  3. “Designing Rare Disease Care Pathways – Access to Clinical Genetics Services is Key”
    AJ Ward, D Murphy, R Marron, V McGrath, M Bolz-Johnson, W Cullen, A Daly, O Hardiman, A Lawlor, SA Lynch, M MacLachlan, J McBrien, S Ni Bhriain, JJ O’Byrne, SM O’Connell, G Sweeney, J Turner, EP Treacy
  4. “Development of a Multidisciplinary Paediatric Cancer Genetics Service – The CHI Experience”
    Noelle Cullinan, Claire Giffney, Sinead Whyte, Andrew Green, Lisa Bradley
  5. “Methylome profiling of young adults with depression in Ireland”
    Amy Louise Doherty, Caoimhe Ward,, Margaret McLafferty, Elaine K Murray, Colum P Walsh, Rachelle Irwin

13:00-14:30 Lunchtime/Poster Viewing

13:30 – 13:45 AGM (in main hall)

13:45-14:15 Lunchtime Sponsored lecture: “Enabling highly flexible and reproducible NGS library preparation workflows through the use of the intuitive and scalable liquid handler flowbot ONE”, Presented by Anna Vejlin (Accuscience)

14.30 Keynote address III: “Dysregulated alternative splicing – a new (and druggable) hallmark of ageing”, Prof Lorna Harries, University of Exeter

15:15-16:15 Oral presentations (Basic) Plenary II

  1. “Somatic Brain Mutations as a Cause of Drug-Resistant Epilepsy including Mesial Temporal Lobe Epilepsy”
    Katherine Benson, Michael Doyle, Robert Carton, Hugh Kearney, Kieron Sweeney, Donncha O’Brien, David Henshall, Gianpiero Cavalleri, Norman Delanty
  2. “Exploring sex-specificities of the lymphoma genomic landscape in the UK Biobank”
    Claire Hill, Marisa Muckian, Marisa Cañadas Garre, Charlene McShane, Alexander P. Maxwell, Lesley Anderson, Amy Jayne McKnight
  3. “Recent demographic history and fine-scale population structure of Ireland and Britain”
    Ashwini Shanmugam, Anne Molloy, Lawrence Brody, Michael Merrigan, Seamus O’Reilly, Gianpiero Cavalleri, Russell McLaughlin, Ross Byrne, Edmund Gilbert
  4. “Sex-stratified analysis of ~133k samples identifies novel associations with Amyotrophic Lateral Sclerosis”
    Ross P. Byrne, Wouter van Rheenen, Jan H. Veldink, Russell L. McLaughlin
  5. “AAV-delivered gene therapy for dry AMD provides benefit in murine and cellular models”
    Sophia Millington-Ward, Naomi Chadderton, Laura K Finnegan, Iris M J Post, Matthew Carrigan, Tom Gardiner, Elisa Peixoto, Daniel Maloney, Marian Humphries, Alan Stitt, Thierry Léveillard, Pete Humphries, Paul F Kenna, Arpad Palfi, G Jane Farrar

16:15-16:45 Coffee break/ Poster viewing (Poster presenters 23-44)

16:45 Keynote address IV: “Ancient Irish and other genomes; expect the unexpected”, Prof Daniel Bradley, Trinity College Dublin

17:30 Honorary Membership Presentation to Prof David McConnell
17:45 Presentation of Prizes:

  • Best Postdoctoral Oral Presentation
  • Young investigator Award for Best Postgraduate Oral presentation
  • Best Postdoctoral Poster
  • Best Postgraduate Poster
  • Announcement and presentation of the Secondary Student Essay Prizes
  • Sponsor prize

18:00 -19:00 Meeting Close (cheese and wine reception)