#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

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

We show that bi-allelic variants in the minor spliceosome snRNAs RNU6ATAC and RNU4ATAC cause early-onset autoimmune diabetes with immune dysregulation. We define a shared mechanism involving U12 intro...

cell.com

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

The American Journal of Human Genetics (@ajhgnews.bsky.social)

https://www.cell.com/AJHG/home

ajhgnews.bsky.social

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.

The minor spliceosome is a master immune regulator

Pathogenic variants in non-coding genes are emerging as critical contributors to human rare diseases. We identified 19 individuals with early-onset diabetes (diagnosed <5 years) and additional clinica...

medrxiv.org

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... 🔓

Global perspectives on monogenic forms of diabetes - Diabetologia

Monogenic forms of diabetes represent an uncommon but very heterogeneous subset of the disease, with variable associated clinical features and key differences in treatment options. In this review, we ...

link.springer.com

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

Global perspectives on monogenic forms of diabetes - Diabetologia

Monogenic forms of diabetes represent an uncommon but very heterogeneous subset of the disease, with variable associated clinical features and key differences in treatment options. In this review, we ...

link.springer.com

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...

Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans

Gene discovery studies in individuals with diabetes diagnosed within 6 months of life (neonatal diabetes, NDM) can provide unique insights into the de…

sciencedirect.com

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

medRxivpreprint@medrxivpreprint.bsky.social · last yr.

MODY is prevalent in later-onset diabetes, has potential for targeted therapy but is challenging to identify https://www.medrxiv.org/content/10.1101/2025.06.17.25329143v1

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.

medRxivpreprint@medrxivpreprint.bsky.social · last yr.

Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans https://www.medrxiv.org/content/10.1101/2025.04.01.25324926v1