Kash Patel

Congratulations @luke-sharp.bsky.social for receiving the best abstract prize for early career researcher in EASD 2025 for his work on MODY in population.

Really cool work from @jacquesml.bsky.social and @kash-a-patel.bsky.social 🥳
24% common variant heritability for a rare disease (MODY)!
This very elegantly shows the overlap between MODY and T2D, and hints at some potential MODY phenocopies

Common genetic variants modify disease risk and clinical presentation in monogenic diabetes - Nature Metabolism In clinical and population-based cohorts, a strong contribution of polygenic risk for type 2 diabetes (T2D) significantly modifies the onset and phenotypic variability of maturity-onset diabetes of th...

Now out in @natmetabolism.nature.com! Excited to share our work showing how common genetic changes shape how diabetes presents in MODY (Maturity-Onset Diabetes of the Young). Our findings highlight the growing overlap between monogenic and polygenic forms of diabetes.

www.nature.com/articles/s42...

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

Population prevalence, penetrance, and mortality for genetically confirmed MODY https://www.medrxiv.org/content/10.1101/2025.06.30.25330354v1

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...

Non-autoimmune, insulin-deficient diabetes in children and young adults in Africa: evidence from the Young-Onset Diabetes in sub-Saharan Africa (YODA) cross-sectional study In sub-Saharan Africa, clinically diagnosed type 1 diabetes is heterogeneous, comprising classic autoimmune type 1 diabetes and a novel, non-autoimmune, insulin-deficient diabetes subtype. There is ev...

New Research:
Non-autoimmune, insulin-deficient #diabetes in children and young adults in #Africa: evidence from the Young-Onset Diabetes in sub-Saharan Africa (YODA) cross-sectional study thelancet.com/journals/lan... #T1D
#OpenAccess

#MedSky #EndoSky

Development and recalibration of a multivariable type 1 diabetes prediction model for type 1 diabetes across multiple screening studies - BMC Medicine Background Accurate type 1 diabetes prediction is important to facilitate screening for pre-clinical type 1 diabetes to enable potential early disease-modifying interventions and to reduce the risk of...

🚨Big news! Excited to share my first PhD paper!🎉
We validated & improved a T1D risk model using TrialNet data (originally from TEDDY), boosting accuracy 📈
bmcmedicine.biomedcentral.com/articles/10....
Try the web tool 👉 t1dpredictor.diabetesgenes.org
#T1D #RiskPrediction #PrecisionMedicine #TrialNet

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

Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY An accurate genetic diagnosis of maturity-onset diabetes of the young (MODY) is critical for personalized treatment. To avoid misdiagnosis, only genes with

Our paper is now out on Diabetes!
diabetesjournals.org/diabetes/art...