27th ISHG Conference

The 27th ISHG meeting took place on 19 September 2024 in the Corrigan / Graves Hall in RCPI. 

The Royal College of Physicians of Ireland is on 6 Kildare Street, Dublin 2.

The full programme is available here. 

The abstract booklet is available here. 

Posters displayed at the conference are also available to view here but you will need the password that was shared at the conference for attendees only.

Keynote Speakers 2024

The following high profile keynote speakers for ISHG 2024 were:

Chairperson report

Our 27th annual scientific meeting was held in the beautiful building of the Royal College of Physicians of Ireland. We had 165 registered delegates, and were kindly supported by 15 sponsors.

We had a wide variety of posters submitted, representing almost every university and Clinical Genetics department in Ireland. All posters will be freely available to delegates on our website, password protected, from now to December 2024. From these, we chose 10 excellent speakers who presented high calibre research findings.

This was the first year that ISHG funded summer studentships and our three successful students presented the findings of their completed projects. All had done an excellent job, within a short timeframe, and had clearly learnt a lot in the process.

We had four keynote speakers this year. We began with Prof Aidan Corvin, who talked about ‘The Enigma of the Mind, the Interface between Psychiatry and Genomics’. He discussed the high proportion of heritability in schizophrenia, along with other psychiatric disorders such as bipolar disorder, autism, ADHD and PTSD. We learnt about specific, high-risk copy number variants and single gene variants, allowing for identification of which patients need closer surveillance, and areas for novel drug therapies.

Prof Orla Hardiman spoke on ‘Gene Hunting in Amyotrophic Lateral Sclerosis (ALS)’ and shared her many years of expertise in this field. She discussed the commonest genetic predisposition genes found in ALS patients in Ireland. She also gave insights into reasons for differences in age of onset, incomplete penetrance and the phenotypic variation within, and between, families with ALS.

Prof Anna Murray discussed ‘Genomic Insights into Mechanisms and Consequences of Reproductive Aging and Menopause’. She described reproductive physiology, the risk factors linked with early and late menopause, and their associated morbidities. We heard about cancer predisposition genes and their links with age of onset of menopause, along with other genes, which are associated with specific menopausal symptoms, e.g. vasovagal effects, and are potential drug targets.

Prof David Lyons gave our last key note talk on ‘What can Zebrafish teach us about Human Genetics?’ This was a very entertaining talk on what we can discover from zebrafish with many fascinating videos and microscopic images of zebrafish. His research on myelination of zebrafish spines, and their recovery after spinal cord injury, shows the potential of using these methods to improve treatments in human neurological disease.

We were delighted to award conference prizes this year – see below for details of our winners. We awarded prizes for the best post-doctoral and best post-graduate oral talks, best basic science poster and best clinical poster. It was a highlight to be joined by our ESHG DNA Day Essay competition winners. These school students competed for the European prize, and were awarded our ISHG prize for best Irish entries. We hope that the competition will encourage them to continue their studies in the field of genetics. Our most prestigious award was the presentation of our new honorary member, Professor Michael Gill. He gave an inspiring talk about his distinguished career and many achievements.

I would like to thank all those who attended and supported our conference and look forward to seeing you again next year. Our next meeting will be held on Friday 12th September in Maynooth University.

Deirdre Donnelly

Prize winners:

ESHG Fellowship award – Mr Corey Alwell

Post-doctoral award – Dr Shauna Quinn

Basic Scientific Poster award – Ms Rasha Shraim

Clinical Poster award – Mr Richard O’Connaill

ESHG DNA Day Essay Winners

First place –                   Guan Hui Lin, Christian Brothers College, Cork, Co. Cork

Joint second place –      Connor Doyle, St Eunans College, Letterkenny, Co. Donegal

                                      Jahnavi Reddy Tumma, Confey College, Lexlip, Co. Kildare

advertising poster for ISHG 2024
Prof Orla Hardiman
Prof Orla Hardiman gave a keynote talk on From Gene Hunting to New Treatments – The Complex Genetics of Amyotrophic Lateral Sclerosis
Prof Anna Murray
Prof Anna Murray gave a keynote talk on Genomic insights into mechanisms and consequences of reproductive ageing and menopause
Corey Alwell
Cory Alwell won the prize for Best Postgraduate Oral Presentation for his talk on Genomic Insights into an Irish Hunter-Gatherer Community
Assoc Prof Lorna Lopez and Prof David Lyons
Committee Member Assoc Prof Lorna Lopez presented Prof David Lyons with a gift to thank him for his keynote talk
Emma O'Donoghue
Emma O’Donoghue gave a talk on Direct to Consumer Genetic testing; the experience of two Clinical Genetics services in the Republic of Ireland
Guan Lin
Guan Lin won 1st Prize in the ESHG DNA Day Competition
Dr Deirdre Donnelly
ISHG Chair Dr Deirdre Donnelly opened the 2024 conference
Ruth McNulty
Ruth McNulty gave one of the ISHG sponsored Summer Studentships talks on Exploring the limits of short-read WGS by investigating samples from three population cohorts
Ceri Arnott
Ceri Arnott gave one of the ISHG Student Summer Scholarship talks on Comparing the Rare disease diagnostic journey in the Republic of Ireland to the rest of Europe, how do we compare?
Prof David Lyons
Prof David Lyons gave a keynote talk on What can zebrafish teach us about human genetics?
Prof Michael Gill
Prof Michael Gill was awarded Honorary ISHG Membership and gave a talk about his career in genetics
Prof Derek Morris
Prof Derek Morris introduced Prof Michael Gill who was awarded Honorary ISHG Membership
Dr Brónagh Ó hIcí, Dr Deirdre Donnelly, and Jaqueline Turner
Dr Brónagh Ó hIcí and Jaqueline Turner ISHG President presented Dr Deirdre Donnelly Chair with a gift to acknowledge the work done in leading the organisation of ISHG 2024
Prof Aiden Corvin
Prof Aiden Corvin gave a keynote talk on The enigma of the mind: the interface of psychiatry and genomics
Richard O'Connaill
Richard O’Connaill won the prize for Best Poster in the Clinical Category for his poster on Update on the CINDI registry and EpiFUN study
Prof Michael Gill and Prof Derek Morris
Prof Derek Morris presented Prof Michael Gill with a gift to commemorate his ISHG Honorary Membership in recognition of a long and distinguished contribution to the field and the community
Cliona Carroll
Cliona Carroll gave a talk on A clinical evaluation of GLA variants of uncertain significance
Dr Shauna Quinn
Dr Shauna Quinn gave a talk on Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe
Deema Ali
Deema Ali gave a talk on FOXP1 Dysregulation and its Association with Schizophrenia and Cognitive Function
Jahnavi Tumma
Jahnavi Tumma won joint 2nd Prize in the ESHG DNA Day Competition
Jaqueline Turner and Prof Orla Hardiman
Jaqueline Turner presented Prof Orla Hardiman with a gift to thank her for her keynote talk
Dr Deirde Donnelly and Prof Aiden Corvin
Dr Deirdre Donnelly ISHG Chair presented Prof Aiden Corvin with a gift to thank him for his keynote talk
Conor Doyle
Conor Doyle won joint 2nd Prize in the ESHG DNA Day Competition
Dr Therese Murphy and Prof Anna Murray
Dr Therese Murphy presented Prof Anna Murray with a gift to thank her for her keynote talk
Dr Deirdre Donnelly and Dr Shauna Quinn
Dr Deirdre Donnelly ISHG Chair presented Dr Shauna Quinn with the award for Best Postdoctoral Oral Presentation
Anna Ridgeway
Anna Ridgeway gave a talk on Genotype-phenotype correlations in IFT140-related retinal dystrophy in a cohort of Irish patients
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Our 26th annual conference took place on the 22nd September 2023 in the Galmont Hotel in Galway.

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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

Prizes:

  • 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
Honorary Membership was bestowed on Dr Marie Greally by the ISHG. Pictured with Dr Lisa Bradley
Honorary Membership was bestowed on Dr Marie Greally by the ISHG. Pictured with Dr Lisa Bradley
ISHG Chairperson Dr Deirde Donnelly and local organizer / committee member Dr Derek Morris
ISHG Chairperson Dr Deirde Donnelly and local organizer / committee member Dr Derek Morris
Keynote speaker Prof Serena Nik Zainal and ISHG Chairperson Dr Deirde Donnelly
Keynote speaker Prof Serena Nik Zainal and ISHG Chairperson Dr Deirde Donnelly
Keynote speaker Prof Gareth Evans and ISHG Chairperson Dr Deirdre Donnelly
Keynote speaker Prof Gareth Evans and ISHG Chairperson Dr Deirdre Donnelly
Keynote speaker Prof Aoife McLysaght and committee member Dr Lara Cassidy
Keynote speaker Prof Aoife McLysaght and committee member Dr Lara Cassidy
Best Postdoctoral Oral Presentation Winner Dr Laura Fahy and ISHG Chairperson Dr Deirdre Donnelly
Best Postdoctoral Oral Presentation Winner Dr Laura Fahy and ISHG Chairperson Dr Deirdre Donnelly
Best Postgraduate Oral Presentation Winner Ifeolutembi Fashima and ISHG Chairperson Dr Deirdre Donnelly
Best Postgraduate Oral Presentation Winner Ifeolutembi Fashima and ISHG Chairperson Dr Deirdre Donnelly
Best Clinical Poster winner Ava Ibrahim and ISHG Chairperson Dr Deirdre Donnelly
Best Clinical Poster winner Ava Ibrahim and ISHG Chairperson Dr Deirdre Donnelly
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25th Annual Irish Society of Human Genetics conference

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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.
Prof David McConnell, Honorary Member
Outgoing Chairperson Jackie Turner and Dr Lisa Bradley
Dr Lorna Lopez and keynote speaker Prof Lorna Harries
Keynote speaker Prof Nicky Whiffin
Keynote speaker Prof Dan Bradley and Dr Lara Cassidy
129 delegates registered in 2022
Best Postgraduate Oral Presentation was awarded to Amy Louise Doherty
Best Postdoctoral Poster was awarded to Dr. Naomi Chadderton
Best Postdoctoral Oral Presentation was awarded to Dr. Sophia Millington-Ward.
Amy Deng of the Institute of Education, Leeson Street won first prize in the DNA Day Essay competition
Eoghan Strain of Scoil Mhuire Buncrana, Co. Donegal won second prize in the DNA Day Essay competition
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ISHG 2021 MEETING REPORT

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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.

Read more
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