news – ISHG

The full programme for our 2023 conference is available here.
The book of abstracts is available here.
You can access PDF copies of the posters presented at the conference here. You will need a password, which was shared at the conference. Please note that these poster files should not be shared or disseminated outside of the conference attendees!

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

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