Iirish Society of Human Genetics Conference

Annual Conference

ISHG 2022

Keynote Speakers

We are delighted to announce that the three below high profile researchers have agreed to be keynote speakers at ISHG 2022

Prof Nicola Whiffin

“Interpreting variation in the non-coding genome”

www.rarediseasegenomics.org/

Nicky joined the Wellcome Centre for Human Genetics as a Group Leader and Sir Henry Dale Fellow, supported by the Wellcome Trust and Royal Society, in Sept 2020. She is also a Junior Research Fellow at St Anne’s College, and a visiting scientist at both the Wellcome Sanger Institute and the Broad Institute of MIT and Harvard.

Nicky’s research uses computational approaches to interpret the role of genetic variants in rare diseases.

Nicky’s undergraduate degree was in Natural Sciences at the University of Cambridge before she studied for a PhD in genetic susceptibility to Colorectal Cancer at the Institute of Cancer Research in London. During her postdoctoral work at Imperial College London, she developed tools and methods to improve interpretation of variants identified in patients with Inherited Heart Conditions.

In her spare time Nicky enjoys playing (field) hockey, hiking, cooking and reading.

Prof Lorna Harries

“Dysregulated alternative splicing – a new (and druggable) hallmark of ageing”

http://teamrna.wixsite.com/harrieslab

Professor Lorna Harries gained her PhD from University College London in 1994.

Lorna established the RNA-mediated disease mechanisms group at Exeter in 2006, and holds a personal chair in Molecular Genetics at the University of Exeter Medical School and a position as co-founder, co-director and Chief Scientific Officer at SENISCA Ltd, a spin out company founded on the Harries lab’s research.

Lorna also heads the Exeter Animal Free Research Centre of Excellence (ARC 2.0) funded by Animal Free Research UK. The Harries lab have interests in -omics approaches to the study of ageing and age-related disease processes in humans, and her work takes a genes to systems approach, ranging from ‘big data’ analyses to detailed individual molecular analysis of particular genes.

Her team were the first to report dysregulation of alternative splicing as a new, and druggable, hallmark of ageing.

Prof Dan Bradley

“Ancient Irish and other genomes; expect the unexpected”

https://www.tcd.ie/Genetics/molpopgen/

Dan Bradley spent his early years on Co Derry farm.  After a degree in genetics from Cambridge University and PhD in medical genetics from Trinity College Dublin he subsequently started to work on the genetics of each species present on that farm, including Irish humans, and has done for over 30 years.  

His laboratory pioneered the molecular genetic analysis of Irish populations, particularly co-analysis with surnames and the sequencing of the genomes of people who lived here thousands of years ago.  This tells about their origins, sometimes their traits and diseases and how they relate to modern Irish people. 

He also works on ancient genomes of domestic animals from bones and parchment.   He holds a Personal Chair in the Smurfit Institute of Genetics in Trinity College Dublin. 

He was awarded the 2020 Royal Irish Academy Gold Medal in the Life Sciences. He is a former president of the Irish Society of Human Genetics.

Annual conference information:

Conference Reports

Summaries and Awards Winners for Previous Conferences

ISHG 2022 Abstract Submissions

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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.