Chairperson’s Report

Our 26th Annual Scientific Meeting was held at the Galmont Hotel on 22nd September. It was an extremely enjoyable and educational day for all, in a beautiful setting. We had around 100 delegates registered in advance, and more arrived on the day. There were also 15 sponsors who very kindly supported us.

There was a very high calibre of local research presented over a wide variety of topics. Our posters were also of a very high standard and we are pleased to be able to display them on our website for the next 3 months, via password protection, for delegates. There were 3 very interesting talks from our keynote speakers covering a wide variety of topics.

Prof Gareth Evans started off our conference with an excellent talk on ‘The importance of moderate and high risk genes and polygenic risk in population risk stratification’. The high risk breast cancer genes are at low frequency, so do not contribute in the majority of hereditary cases. Conversely, around 45% of risk is polygenic. Breast density is one of the biggest risk factors for breast cancer, as it affects a mammogram’s ability to pick up a cancer, and is highly hereditable. A better understanding of breast cancer risks will allow us to develop more personalised screening strategies.

Prof Serena Nik Zainal was our second keynote speaker, talking about ‘Utilising the full potential of whole genome sequencing for clinical purposes’. Cancer tumour samples show 1000s of mutations, most of which were thought to be noise or passenger events. However, if we look carefully, we see patterns emerging, which can have diagnostic and management implications, e.g. in identifying germline mutations, finding the primary in metastatic cancers and dictating treatments.

Our final keynote speaker was Prof Aoife McLysaght, who spoke on ‘Dosage sensitivity in evolution and disease’. We learnt of how vertebrates evolved from tetraploidy cells and about ohnologs, which was a new concept for many of us. Ohnologs are the genes retained after whole genome duplication. Studying these genes tells us important information about dosage sensitivity and help us to identify which genes are responsible for pathogenicity within rare copy number variants.

At our AGM we announced our Summer Research Studentships, which are now available for 2 students, beginning in summer 2024. Further details can be found on our website.

We were delighted to give out prizes at the end of the day and found it difficult to choose the best among them. See below for details. We were very proud to welcome Dr Marie Greally as a well-deserved honorary member. Dr Greally has shown great commitment to her patients throughout her career and inspired and educated many Geneticists along the way.

Finally, I want to thank all our speakers, delegates and sponsors, for making our conference such a success. I look forward to meeting you all again at our 27th Annual Scientific Meeting, which will be held in the Royal College of Physicians in Ireland, Kildare Street, Dublin, on Thursday 19th September.
Deirdre Donnelly


  • Best post-doc oral – Dr Laura Fahey
  • Best post-grad oral – Ms Ifeolutembi Fashina
  • Best basic science poster – Mr Aodan Laighneach
  • Basic clinical poster – Dr Aya Ibrahim

Our 25th annual conference took place on the 16th September in the Radisson Blu Hotel, Golden Lane, Christchurch, Dublin 2.

The meeting had 129 registrations and was hugely successful. After a welcome from our Chairperson Jackie Turner we had an address from Dr Mark Bale, Advisor and Lead for the National Strategy for Genetics and Genomics for Ireland who provided “An update on The National Genetics and Genomics Strategy for Ireland”. We also had an update from the IPPOSI Citizen Jury on Genetics and Genomics before the keynote talk from Prof Nicola Whiffin on “Interpreting variation in the non-coding genome”. Sequencing the coding regions only misses the impact of regions that play regulatory roles.

After coffee 5 speakers presented in our clinical plenary which took us to lunch and poster viewing. An impressive sponsored lecture from Accuscience on their FlowBot (wit a demo model on site!) followed before the keynote from Prof Lorna Harries on “Dysregulated alternative splicing – a new (and druggable) hallmark of ageing”. Unsurprisingly this talk generated a lot of excitement as Prof Harries was able to demonstrate new understandings in the ageing process, with the promise of interventions to increase “healthspan”.

Our basic research plenary followed before our final keynote from Prof Dan Bradley who gave us history and genetics on a tour of ancient Ireland as informed through ancient DNA. Honorary membership was then deservedly bestowed on Prof David McConnell who entertained everyone with his look back on the research genetics community in Ireland.

There was a warm reception for the two Secondary Student Essay Prizes:

  • First Prize: Amy Deng – Institute of Education, Leeson Street
  • Second Prize: Eoghan Strain – Scoil Mhuire Buncrana, Co. Donegal

The conference concluded with the announcement of the best presentations listed below. The oral presentations were voted on by all attendees and the poster prizes were judged by the ISHG committee.

Prizes 2022

  • Best Postdoctoral Oral Presentation: “AAV-delivered gene therapy for dry AMD provides benefit in murine and cellular models” presented by Dr. Sophia Millington-Ward. Prize of €150 cash & Registration fees for the ESHG 2023
  • Best Postgraduate Oral Presentation: “Methylome profiling of young adults with depression in Ireland” presented by Amy Louise Doherty. Prize of €150 cash, & travel scholarship to ESHG 2023.
  • Best Postdoctoral Poster: “Therapeutic potential of AAV-ophNdi1 for the treatment of neurodegenerative disease”  presented by Dr. Naomi Chadderton. Prize of Registration fees for ESHG 2023.
  • Best Postgraduate Poster: “Folic acid intervention during pregnancy alters DNA methylation, affecting neural target genes through two distinct mechanisms” presented by Luke Hilman. Prize of Registration fees for ESHG 2023.
  • Young Investigator Award Rebecca Mahoney. Prize of €150 cash prize & travel scholarship to 2023 ESHG meeting.

Our 24th National conference again took place online this year. Our conference was really well received, our delegates particularly enjoyed the lunchtime discussion (for and against) reporting secondary findings (when found in a diagnostic laboratory) between Prof Gianpierro Cavalleri and Dr Lisa Bradley.