Our first speaker in the clinical session is Cliona Carroll to talk about evaluation of GLA variants of uncertain significance #ISHG2024

Shauna Quinn is telling us about inherited autosomal recessive disorders in Roma population

Next up Emma O'Donoghue will talk about direct to consumer genetic testing, based on the experience if two service providers in Ireland #ISHG2024

Mark Doherty from Genomics England takes the stage to tell us about DRAGENv4.0. This is software for short read sequencing alignment #ISHG2024

Closing out the clinical session is Anna Ridgeway talking about IFT140 related retinal dystrophy in Irish patients #ISHG2024

REGISTRATION for VIBE-ICBG24 now OPEN ! Fantastic opportunity for early career researchers in genomics/bioinformatics/comp biology to present their work and connect with other PhD students and researchers in the field! Taking place on 5th and 6th Dec Ollscoil na Gaillimhe | University of Galway !

Our keynote speaker from last year's conference! Congratulations Prof Aoife McLysaght

The ESHG Precision Medicine Team are excited to announce that registration is now open for the European Society of Human Genetics (ESHG) Precision Genomic Medicine Workshop 2025. See buff.ly/42oroyq for details.

A reminder of the ESHG Precision Genomic Medicine Hybrid Workshop: A Focus on Clinical Utility takes place on the 9th April at The Pillar Centre for Transformative Healthcare Eccles Street Dublin and also onine #hybridevent. See buff.ly/KPzNXuH for details.

We are now accepting abstract submissions for #ISHG2025 until Friday 20th June! Further details are on our website - ishg.ie/conference/ including our keynote speakers, venue information, etc

Registration for #ISHG2025 is now open at eventbrite.com/e/ishg-2025-ti… register early to avail of our early-bird discounts! We have extended the submission deadline to 27th June. Abstracts can be uploaded at app.oxfordabstracts.com/stages/77802/s… All details on ishg.ie/conference

There is a Scientific call for proposals from the Angelman Syndrome Alliance (ASA) that may be of interest to ISHG members. See ishg.ie/2025/07/16/cal… for details.