James Russ-Silsby

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...

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.

15.09.2025 08:28 — 👍 4    🔁 7    💬 0    📌 0

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 ...

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... 🔓

22.07.2025 17:35 — 👍 8    🔁 4    💬 0    📌 0

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 ...

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

17.07.2025 10:29 — 👍 5    🔁 1    💬 0    📌 0

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

03.07.2025 00:22 — 👍 6    🔁 4    💬 0    📌 0

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…

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...

03.07.2025 14:23 — 👍 11    🔁 7    💬 1    📌 1

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

19.06.2025 12:05 — 👍 5    🔁 6    💬 0    📌 0

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

04.04.2025 17:07 — 👍 3    🔁 2    💬 0    📌 0

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.

04.04.2025 08:10 — 👍 10    🔁 8    💬 0    📌 0