Now the dust has settled on #LorneGenome25 I’ve had time to reflect on how much I enjoyed the bonus Wednesday morning sessions, where we heard an amazing talk from Julian Wells Medalist Jozef Gecz & awarded student & ECR prizes. Looking forward to seeing you all for #LorneGenome26 15-18 Feb 2026!

Had a great experience speaking at #LorneGenome25 - it was my third year attending the conference and it's always something I look forward to each year. Such a welcoming community and so much amazing science! 😊

Ending #lorneGenome25 with an inspiring talk from Jozef Gecz, winner of the Julian Wells Medal. An overview of his career journey through gene discovery and characterisation in neurodevelopmental disorders. Ending with lessons learnt along the way 🧬 #collaborationIsKey #patientsFirst

JG: Lessons learned: 1) patient initiated investigation can be scientifically rewarding as well as awarding for obvious reasons - 2) human is often the best model to study genetics and biology of NMDs - 3) to solve a patient case requires an army of scientists and clinicians #LorneGenome25

JG: Discussing NMD as an effector of transcriptional adaptation - recently published as a modifier in MD #LorneGenome25

JG: Up to 1/3 of pathogenic variants in human genetic disease including cancer undergo NMD #LorneGenome25

JG: In THOC2 hypomorphic variant cases saw increased DNA damage #LorneGenome25

JG: KDM5C also a common finding and THOC2 #LorneGenome25

JG: In the Australian CP biobank CTNNB1 is the most commonly identified gene #LorneGenome25

JG: Discussing the genetic underpinnings of cerebral palsy - ~33% have obvious monogenic causes of disease - ~63% of CP genes are also DEE genes #LorneGenome25

JG: Need to pay attention to whether the variants identified are germline or occur post zygotically #LorneGenome25

JG: discussing the heterogeneity and overlap with monogenic and polygenic factors of neurodevelopmental disorders #LorneGenome25

JG: Noting that he was part of the group (or leading the group) in 250 (I think) different neurologic gene discovery projects #LorneGenome25

JG: 1 in 7-8 children face neurodevelopmental complexity - and there is significant heterogeneity and overlap in the complex set of disorders #LorneGenome25

JG: Discussing his journey and the parallel journey for the field of molecular genetics and diagnostics #LorneGenome25

JG: Leveraging natural human variation to understand neurodevelopmental disability and brain function #LorneGenome25

Up now the Julian Wells Medalist Jozef Gecz, Professor of Human Genetics at the University of Adelaide #LorneGenome25

VH: Have performed RNA-Seq and so far have identified XIST across experiments and also noting some interesting findings from other genes - won't share as not published I don't believe #LorneGenome25

VH: Follicle number in rat ovaries was associated with altered Pol2ra expression #LorneGenome25

VH: Discussing 45 XO Turner syndrome - presents with infertility - showing similarities between adult rat ovaries as compared to human; fewer follicles and thinner granulosa cell layer also seen #LorneGenome25

Up next Vincent Harley talking about a new rat model that recapitulates the reproductive phenotype of Turner syndrome #LorneGenome25

AS: Marker genes of all lineages were found to be misregulated in GATA2/3 KO lines - these deficient lines failed to differentiate, but still lose pluripotency #LorneGenome25

AS: Showed that GATA3-bound sites undergo changes in chromatin accessibility - differing patterns in the persistent, early, and late GATA3 peaks #LorneGenome25

AS: In early GATA binding subset - co-bound with pluripotency factors - POU5F1 recruits GATA3 to early sites #LorneGenome25

AS: GATA3+ cells are multipotent, levels are correlated with cell fate outcomes - what is GATA3 doing? Using GATA3 ChIP-Seq showed that the GATA3 genome-binding profile changes over time - persistent binding subset showed enrichment in consensus GATAA motifs #LorneGenome25

AS: Embryonic stem cell identify changes during gastrulation - can be to amnion, endoderm, mesoderm, or ectoderm and this process can be studied to learn about lineage outcomes #LorneGenome25

Up now Adrienne Sullivan discussing Early lineage commitment and chromatin remodelling underpin patterning in human gastrulation #LorneGenome25

pubmed.ncbi.nlm.nih.gov/31556969/ #LorneGenome25

DB: Now discussing the molecular basis for this reawakening of anergic B cells in the germinal center - but this is new work so won't share #LorneGenome25

DB: Showed that anergic B cells can be reawakened and enter the germinal center - and that in the germinal center these B cells can mutate to decrease self-reactivity - and go on to becoming functional B cells capable of responding to foreign antigens #LorneGenome25