James Russ-Silsby
@jamesr-s.bsky.social
Postdoctoral researcher at the University of Exeter studying the genetics of neonatal diabetes.
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...
www.medrxiv.org
September 15, 2025 at 8:28 AM
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.
Reposted by James Russ-Silsby
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
July 22, 2025 at 5:35 PM
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... 🔓
Reposted by James Russ-Silsby
Reposted by James Russ-Silsby
Homozygous loss-of-function variants in PAX4 are a novel genetic cause of transient neonatal #diabetes www.sciencedirect.com/science/arti...
July 3, 2025 at 12:22 AM
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...
🔗 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…
www.sciencedirect.com
July 3, 2025 at 2:23 PM
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...
🔗 doi.org/10.1016/j.mo...
Reposted by James Russ-Silsby
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
#MonogenicDiabetes
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
June 19, 2025 at 12:05 PM
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
#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
April 4, 2025 at 5:07 PM
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.
Complete Loss of PAX4 causes Transient Neonatal Diabetes in Humans https://www.medrxiv.org/content/10.1101/2025.04.01.25324926v1
April 4, 2025 at 8:10 AM
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.