#eshg2026 Early Career awards: Bryce Sebastian Rampal (Montréal, CA) Tanja Frey (Zurich-Schlieren, CH) Anthony Edward Francis McGuigan (Oxford, UK) Irena Josephina Johanna Muffels (Utrecht, NL) Samuel Moix (Lausanne, CH) Lea M Urpa (Helsinki, FI) James Russ-Silsby (Exeter, UK)

🧬 Leigh Jackson (Exeter) presents multiple papers (see EJHG Special Issue ☝️ ) #ESHG2026 Penetrance of TSC, PCD, OI & RB1 across ~900,000 individuals Careful variant & phenotype curation matters In clinically unselected populations, disease risk can be ⬇️ than traditional estimates. #Genomics

🧬 New from Johnson et al! 📄Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

Authors of @ajhgnews.bsky.social's latest article expand the phenotypic spectrum of RNU4ATAC-associated disorders by showing that bi-allelic variants in the minor spliceosome snRNAs RNU6ATAC & RNU4ATAC cause early-onset autoimmune diabetes with immune dysregulation: https://bit.ly/40MZmLd #ASHG

I’m excited to share the 2 newest Neonatal diabetes genes: RNU4ATAC and RNU6ATAC. These genes encode snRNA components of the minor spliceosome and biallelic variants in them cause monogenic autoimmune diabetes. If you are at #EASD, come to Matt Johnson’s talk Tuesday @4pm in Milan hall to hear more.

Global perspectives on #MonogenicDiabetes: review explores recent advances, global diagnostic challenges and promising future directions—from genomic equity to innovative therapies. #GlobalHealth link.springer.com/article/10.1... 🔓

An update on monogenic #diabetes @diabetologiajnl.bsky.social link.springer.com/article/10.1...

Homozygous loss-of-function variants in PAX4 are a novel genetic cause of transient neonatal #diabetes www.sciencedirect.com/science/arti...

Really proud of this Exeter–Stanford collaboration identifying bi-allelic variants in PAX4 as a novel cause of transient neonatal diabetes—the first new genetic cause of this subtype described in over a decade. This work expands our understanding of beta cell development. 🔗 doi.org/10.1016/j.mo...

MODY is prevalent in later onset diabetes. Really proud to announce the release of a preprint of our paper assessing MODY in people diagnosed with diabetes later in life!! #MonogenicDiabetes

On the way back to Exeter after a brilliant few days at the @gensocuk.bsky.social Communicating Your Science Workshop. I can't recommend this course enough to any early-career researchers looking to elevate their science communication skills and improve their confidence in public speaking #CYS25

There are fewer than 10 documented genetic causes of Transient Neonatal Diabetes (TNDM) and now PAX4 is one of them! Really proud of this collaborative work done between the Neonatal Diabetes Research Team at Exeter and the Translational Genomics of Diabetes Lab in Stanford.