Matt Johnson
@mbjohnson.bsky.social
Diabetes UK and Breakthrough T1D RD Lawrence fellow in Exeter
Diabetes/autoimmunity/genetics.
Diabetes/autoimmunity/genetics.
Reposted by Matt Johnson
The project is ideal for candidates excited by fundamental evolutionary questions at the intersection of wildlife disease ecology, genomics, and immunology. You will have significant freedom to develop the project in directions that match your interests and strengths. 🔬🧪🐭
NERC GW4+ DTP PhD studentship | University of Exeter
About the PartnershipThis project is one of a number that are in competition for funding from the NERC Great Western Four+ Doctoral Training Partnership (GW4+ DTP).
tinyurl.com
November 15, 2025 at 6:48 PM
The project is ideal for candidates excited by fundamental evolutionary questions at the intersection of wildlife disease ecology, genomics, and immunology. You will have significant freedom to develop the project in directions that match your interests and strengths. 🔬🧪🐭
Reposted by Matt Johnson
Excited to announce the acceptance and publication of our paper titled “Population prevalence, penetrants, and mortality for genetically confirmed MODY” in JCEM: doi.org/10.1210/clin...
#MODY #monogenicdiabetes
#MODY #monogenicdiabetes
Population prevalence, penetrance, and mortality for genetically confirmed MODY
AbstractContext. Diagnosing Maturity-Onset Diabetes of the Young (MODY) is clinically important for treatment and prognosis. However, phenotype-based studi
doi.org
November 3, 2025 at 11:02 AM
Excited to announce the acceptance and publication of our paper titled “Population prevalence, penetrants, and mortality for genetically confirmed MODY” in JCEM: doi.org/10.1210/clin...
#MODY #monogenicdiabetes
#MODY #monogenicdiabetes
Reposted by Matt Johnson
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 Matt Johnson
New preprint out now! We show polygenic background shapes GCK-MODY clinical presentation. In >1,000 cases, higher polygenic risk increased the chance of exceeding diagnostic diabetes thresholds, highlighting how monogenic & polygenic factors jointly shape disease. #Genetics
Polygenic Background Contributes to GCK-MODY Clinical Presentation and Glycaemic Variability https://www.medrxiv.org/content/10.1101/2025.08.04.25332935v1
August 11, 2025 at 4:57 PM
New preprint out now! We show polygenic background shapes GCK-MODY clinical presentation. In >1,000 cases, higher polygenic risk increased the chance of exceeding diagnostic diabetes thresholds, highlighting how monogenic & polygenic factors jointly shape disease. #Genetics
Reposted by Matt Johnson
Congratulations @carolinefwright.bsky.social for being elected to a fellow of the Academy of Medical Sciences! 🍾!
news.exeter.ac.uk/faculty-of-h...
@nihrexeterbrc.bsky.social
news.exeter.ac.uk/faculty-of-h...
@nihrexeterbrc.bsky.social
May 22, 2025 at 7:20 PM
Congratulations @carolinefwright.bsky.social for being elected to a fellow of the Academy of Medical Sciences! 🍾!
news.exeter.ac.uk/faculty-of-h...
@nihrexeterbrc.bsky.social
news.exeter.ac.uk/faculty-of-h...
@nihrexeterbrc.bsky.social
Reposted by Matt Johnson
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.
Reposted by Matt Johnson
And thus ends the USA's ability to host international conferences.
French researcher, going to a conference in Houston, was forbidden entry to US; his work and personal electronics were both confiscated.
Why? Because a “random search” of his cell phone revealed a negative personal opinion on Trump and the Trump administration. www.lemonde.fr/internationa...
Why? Because a “random search” of his cell phone revealed a negative personal opinion on Trump and the Trump administration. www.lemonde.fr/internationa...
Etats-Unis : un chercheur français refoulé pour avoir exprimé « une opinion personnelle sur la politique menée par l’administration Trump »
Le ministre de la recherche a dit sa « préoccupation », mercredi, après cette décision des autorités américaines. Le chercheur du CNRS aurait subi un contrôle aléatoire à son arrivée, avant que son or...
www.lemonde.fr
March 19, 2025 at 6:20 PM
And thus ends the USA's ability to host international conferences.
Reposted by Matt Johnson
New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...
Evidence Aggregator: AI reasoning applied to rare disease diagnostics
Retrieving, reviewing, and synthesizing technical information can be time-consuming and challenging, particularly when requiring specialized expertise, as is the case of variant assessment for rare di...
www.biorxiv.org
March 15, 2025 at 2:44 AM
New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...
Reposted by Matt Johnson
Exciting times for genomics research @exeter.ac.uk @nihrexeterbrc.bsky.social! 🧬 New preprint from the team: using large-scale WGS from @ukbiobank.bsky.social and All of Us shows convergence between rare and common genetic associations, with implications for genetic architecture of complex traits.
Really excited to share our next population-scale WGS work preprint. Here, we analyse three anthropometric traits in nearly 700,000 individuals (discovery UKB ~450K, replication AoU). We show, for these traits, that common and rare variant heritability is convergent
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations
Genetic association studies have mostly focussed on common variants from genotyping arrays or rare protein-coding variants from exome sequencing. Here, we used whole-genome sequence (WGS) data in 672,...
www.biorxiv.org
February 27, 2025 at 12:51 PM
Exciting times for genomics research @exeter.ac.uk @nihrexeterbrc.bsky.social! 🧬 New preprint from the team: using large-scale WGS from @ukbiobank.bsky.social and All of Us shows convergence between rare and common genetic associations, with implications for genetic architecture of complex traits.
Reposted by Matt Johnson
Millions of people with type 2 diabetes could receive better treatment thanks to a new, simple low-cost tool, according to groundbreaking research announced today at the Diabetes UK Professional Conference and published in the Lancet.
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February 26, 2025 at 8:53 AM
Millions of people with type 2 diabetes could receive better treatment thanks to a new, simple low-cost tool, according to groundbreaking research announced today at the Diabetes UK Professional Conference and published in the Lancet.
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