The 26th Annual Scientific Meeting of the Irish Society for Human Genetics was held at the Galmont Hotel on 22nd September. Congratulations to CRT student Tembi Fashina who won “Best postgraduate oral presentation!!!
Tembi gave an excellent presentation on her work on “Investigating the role of rare microRNA-associated germline variants in the epileptic encephalopathies“.
There was a strong CRT presence at the ISHG – CRT student Hamidah Ghani was selected to give an oral presentation on her work on “Joint analysis of multiple trio genomic datasets for the discovery of novel dominant epilepsy genes” and there were lots of poster presentations from CRT students. Our own Prof Aoife McLysaght gave a keynote talk 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.
Overall a really nice meeting with really interesting oral and poster presentations from CRT students!