09:30 Registration, tea/coffee, Poster viewing & visit the Sponsors

10.25 Welcome

10:30 Keynote address I: Prof Gareth Evans

The importance of moderate and high risk genes and polygenic risk in population risk stratification

11:15-12:15 Oral presentations (Basic) Plenary I (Each presentation 10 minutes + 2 minutes Q&A)

OP01 Joint analysis of multiple trio genomic datasets for the discovery of novel dominant epilepsy genes

Hamidah Ghani, Susan Byrne, Maire White, Peter Widdess-Walsh, Eavan McGovern, Michael Doyle, Patrick Moloney, Daniel Costello, Brian Sweeney, Mary O’ Regan, David Webb, Marie Greally, Colin Doherty, Katherine Benson, Gianpiero Cavalleri

OP02 MEF2C Dysregulation and its Association with Neuropsychiatric Disorders and Cognitive Function in Human Neural Cells

Dema Ali,Derek Morris

OP03 Biological Insights into Sleep, Neurodevelopmental and Neuropsychiatric Conditions: Investigating the Overlapping Genetic Contributions Using Pathway-Based Polygenic Score Analysis

Laura Fahey,Cathy Wyse, Lorna Lopez

OP04 Investigating the role of rare microRNA-associated germline variants in the epileptic encephalopathies

Ifeolutembi Fashina, Gianpiero Cavalleri, Simon Furney, Genomics England Research Consortium

OP05 Late Upper Palaeolithic genomes from the south of France

Emily Breslin, Valeria Mattiangeli, William E Banks, Mathieu Langlais, Sylvain Ducasse, Lara M Cassidy, Andrea Manica, Daniel G Bradley

12:15-12:30 Juice break

12:30-13.15 Keynote address II: Prof Serena Nik Zainal

Utilising the full potential of whole genome sequencing for clinical purposes

13.15-13.30 ISHG AGM & chairperson report

13:30-14:30 Lunch, Poster viewing & visit the Sponsors

14.30-15:30 Oral presentations (Clinical) Plenary II (Each presentation 10 minutes + 2 minutes Q&A)

OP06 Blockchain and Artificial Intelligence-Enabled Stratified Trial System (BESTS) – A patient driven platform that leverages clinical and genomic data to accelerate clinical trial recruitment for precision therapies

Laura Brady, Kevin Power, Zita McCrea, Maire White, William Northey, Gerard Coyne, Michael Meagher, Daniel Murphy, Edmund Gilbert, Omri Teltsh, Marie Greally, C.P. Doherty, Norman Delanty, Stacey Grealis, Nuala Ryan, Stephanie Skeffington, Torie Robinson, Venkat Malladi, Kevin Marshall, Oran Rigby, Gianpiero Cavalleri

OP07 Using smMIPs-based panel sequencing to elucidate the genetic architecture of macular degenerations in an Irish cohort

Ella Kopcic, Rebekkah Hitti-Malen, Laura Whelan, Daan Panneman, Erica Boonen, Emma Duignan, Paul Kenna, David Keegan, Laura Finnegan, Frans Cremers, G. Jane Farrar

OP08 Pinpointing where risks occur along a Clinical Genetics patient pathway; Data from 5 European centres

Deborah Lambert, Dearbhla Butterly, Alana J Ward, Ioana Streata, Gillian Rea, Shane McKee, Helen Stewart, Mari Bandiola, Outi Kuismin, Jukka Moilanen, Marta Bertoli, Christine Poole, Sally Ann Lynch

OP09 A 6 month pilot study for germline genetic testing for ‘BRCA’ and ‘Lynch’ in Cork University Hospital

Marie Duff, Mark Corrigan, Anand Saggar

OP10 A cascade-driven review of variant assessments comparing probands’ reports to updated assessments

Adrian Dockery, Daria MacDonagh,Jenny Hengeveld, Gordon Blackshields, Aislinn Cooper, Joseph Galvin, Jim O’Byrne, Sinead Howard, Peter O’Gorman

15:30-16.00 Tea/coffee, Poster viewing & visit the Sponsors

16.00 Keynote address III: Prof Aoife McLysaght

Dosage sensitivity in evolution and disease

16.45 Honorary Membership Presentation – Dr Marie Greally

Presentation of Prizes & Wine & cheese reception & poster viewing

19:00 Meeting Closes

The titles of the posters being presented are below. They can be also viewed online at Posters from the 2023 conference but you will need a password which will be provided at the conference to attendees.

  1. The utility of donor polygenic risks scores in predicting long term graft function
  2. A genetic perspective on the recent demographic history of Ireland and Britain
  3. Cell-type specific transcriptomic profiling in schizophrenia identifies changes in GABAergic neurons and oligodendrocytes at transcript level
  4. Determining the diagnostic yield of genomic testing from pulmonary fibrosis ascertained in Ireland
  5. A comparison of feature selection methodologies and learning algorithms in the development of a DNA methylation-based telomere length estimator
  6. Adapted qPCR Methodology to Detect Oxidative Damage Associated with Induction of Telomere Attrition (TA) in Murine Tissue
  7. Diagnostic Yield of Broad Genomic Strategies: An Updated Analysis of The Irish Kidney Gene Project Registry
  8. A Novel Dominant ALG5 Pathogenic Variant in Two Unrelated Irish Families with Late-onset ADPKD and Atypical Tubulointerstitial Changes
  9. The impact of additional damaging rare variants on familial variability in autosomal dominant polycystic kidney disease
  10. Copy Number Variant Analysis Using Sequencing Data Improves Diagnostic Yield for Autosomal Dominant Polycystic Kidney Disease
  11. ACMG-guided diagnostic yield in genetic generalized and non-acquired focal epilepsy
  12. European Health Data Space: implications for genetics research in Ireland
  13. Investigating the genetic basis of cognitive function
  14. Nonsense SERPINA1 Variants and Alpha-1 Antitrypsin Deficiency
  15. Congenital Mismatch Repair Deficiency (CMMRD) Diagnostic and Screening Challenges
  16. Investigating Mitochondrial Genomics and Age-Related Diseases: A Comprehensive Analysis
  17. Identification of autism-associated copy number variations: bioinformatic filtering pipeline optimisation in whole genome sequencing family data
  18. Rare variant burden analysis in polycystic kidney disease
  19. Characterisation of diverse global ancestries within the UK Biobank
  20. A cloud-based bioinformatic tool to enable automated diagnostic analysis of raw genomic sequence data from people with rare monogenic diseases
  21. An Audit of the number of Robertsonian Translocations found after follow-up of Acrocentric Trisomies in Pregnancy Loss Samples in the past 8 Years
  22. The Effect of Post-Weaning Social Isolation and Chronic Celecoxib Administration on Gene Expression in the Mouse Hippocampus
  23. Review of variants assessed with updated PP3 guidelines from ClinGen
  24. The Genomic Data Infrastructure Ireland Project
  25. Proposed model for erythrocyte derived Microvesicles (eMV) as delivery vectors and potential impact on THP-1 cells
  26. First instance of a pathogenic ARL3 variant in an Irish inherited retinal degeneration cohort.
  27. The Development of an Alkaptonuria Clinic for Adults in Ireland
  28. Biallelic likely pathogenic variants in RPE65 in a patient with Retinitis Pigmentosa.
  29. A comparative review of popular DNA methylation microarray analysis pipelines for human intervention studies
  30. A rare case of X-linked osteoporosis with fractures due to a splice variant in the PLS3 gene
  31. Prevalence and Spectrum of Lysosomal Storage Disorders: Insights from the Adult National Centre of Inherited Metabolic Disorders
  32. The effects of an ultrarare variant in ATP6V0A1 on lysosome function, autophagy and nutrient sensing
  33. The phenylalanine hydroxylase genotype and the expected responsiveness to sapropterin dihydrochloride in the adult Irish population