ISHG 2025

ISHG 2025 was held on the 12th September 2025 in the Iontas Theatre in National University of Ireland Maynooth

Keynote Speakers:

• Prof Lina Zgaga (Trinity College Dublin)
• Prof Zosia Miedzybrodzka (Aberdeen University)
• Dr Charlotte Murphy (Forensic Science Ireland)
• Prof Bobby McFarland (Newcastle University)

Click to view:

• The Official Programme for ISHG 2025.
• The Abstract Booklet for ISHG 2025.

The posters presented at the 2025 conference are available here  to those who attended on the day (password shared at the conference).

Chairperson’s Report

It was a pleasure to see so many of you at our 28^th annual scientific meeting this year. Iontas Theatre, Maynooth University, proved to be an excellent venue, with plenty of space for our excellent poster presenters. Our posters represent all university and Clinical Genetics departments throughout Ireland, and are going to be available to delegates on our website (password protected) until December 2025. We had 134 registered delegates and were generously supported by 12 sponsors, along with funding from Maynooth University. Our plenary speakers were chosen from the high calibre of abstracts submitted in June.

Our conference began with an excellent talk from our first keynote speaker, Prof Lina Zgaga, who spoke on ‘Gene-Environment Interactions and Vitamin D’, detailing her research into vitamin D pathophysiology. We learnt about the interplay between genetic and environmental factors involved in ambient UV radiation absorption and vitamin D status, along with the many clinical effects of vitamin D deficiency, and the importance of vitamin D supplementation.

Our basic science and clinical plenary sessions showcased the excellent variety, and very high standard, of research undertaken in the past 12 months, and the excellent collaborative work between so many of our institutions.

Our second keynote speaker, Prof Zosia Miedzybrodzka, began her talk ‘Reflections on the Distinct Genetic Disease Epidemiology of Northern Scottish Populations: how should we seek to maximise health?’ with an informative overview of Scottish history. Her extensive research in epidemiology and gene discovery in the north of Scotland, particularly Shetland and Orkney, and including the Orkney Complex Disease Study, has led to the identification of founder mutations in BRCA1 and BRCA2. She explained her techniques of initiating community engagement to facilitate widespread population screening, which has been very well received in the local populations.

After lunch, poster viewing and sponsor visits, we started back with our third keynote speaker, Prof Bobby McFarland, discussing ‘Mitochondrial Disease: Principles, Presentations and Prevention’, illustrated with many comprehensive patient videos showing the wide phenotypic variability and progression of mitochondrial disease. He detailed his work on the introduction of mitochondrial donation, a pioneering technique to prevent transmission of mitochondrial disease, and the outcomes in his clinical practice.

Our final keynote speaker, Dr Charlotte Murphy, gave an enlightened talk, ‘Forensic Science in Ireland’ highlighting her expertise in this area. We learnt the many and varied ways in which scientific evidence is collected and calculated, including use of a Bayesian Theory approach, to evaluate criminal cases. She illustrated with examples how this approach has developed her role so that it is no longer just about reporting scientific facts alone but also evaluating the significance of any finding to assist the jury in determining guilt or innocence.

Our conference ended with the awards ceremony. We were delighted to award this year’s honorary membership to Professor Andrew Green, in recognition of his many years of dedicated service in the field of Clinical Genetics.

Our conference prize winners also received their certificates as follows:

• ESHG Young Investigator Award (oral presentation) – Enya Nordon
• ISHG Oral Presentation Award – Rasha Shraim
• Best Basic Poster Award – Fiona Pantring
• Best Clinical/Clinical Research Poster Award – Ciara O’Donaghue

We were delighted to be joined by the Irish winners for the ESHG DNA Day Competition. Alongside the European competition, ISHG awards the best Irish entries from school students throughout Ireland. Our Essay Winner this year was Aditi Kadam, and our DNA Video Winner was Tudor Neacsu.

Overall, it was an extremely successful conference, reflected in the positive feedback, and we look forward to seeing you all again at our conference next year in Royal College of Surgeons in Ireland, Dublin – the date will be announced soon.

Dr Deirdre Donnelly