Kashyap Patel
@Kash_A_Patel
Wellcome Trust Fellow researching in Diabetes and Genetics at @UniofExeter @exetermed. Associate Professor and Consultant in Diabetes @RDEhospitals
The recipients of the 2025 ESE Awards will be speaking at the Joint Congress of ESPE and ESE in Copenhagen Check out their inspiring lecture topics 👉 ow.ly/l4Kj50VQ2hz @BrueThierry @SFEndocrino @CUH_NHS @NIHRresearch @Kash_A_Patel @ENSAT_news @AlePreteUoB @UoB_MSS
Want to find out about maternally inherited diabetes and deafness ? Thanks to Julie for sharing her story on the impact of this condition and to @Kash_A_Patel for explaining the science 1in6b.com/series-3-episo… @athattersley @RoyalDevonNHS @ExeterMed
Pleased to share our new preprint medrxiv.org/content/10.110… - Genetically confirmed MODY have high T2D risk ~ 24% of phenotypic variance due to common genetic changes - polygenic background alters diabetes risk 18 to 81%

#SyndromicDiabetes is caused by changes in certain genes. So far only half of the genetic changes behind the condition have been found, and so Prof @Kash_A_Patel aims to find more🔎 His project would help more people receive the right diagnosis and care. diabetes.org.uk/our-research/a…
Today we celebrate the 5 year anniversary of the NHSE R14 service - that went live October 1st 2019🧬 The service has grown since then - now offering rapid testing to 1200 families per year by whole genome sequencing on the first NovaSeq Xp to be installed in the NHS 🧬⭐️🧬⭐️
The 2025 European Journal of Endocrinology Award winner is @Kash_A_Patel Join Kash for his plenary lecture at the Joint Congress of ESPE and ESE 2025 👉 espe-ese-congress2025.org/espe-ese-2025-…… @EsePresident @FBeuschlein @OUPMedicine @mrcppu @exetermed @wellcometrust @DiabetesUK @EJEndo
Oops ..Incorrect picture @ESEndocrinology .. Here is the person who truly deserves this honour royalsociety.org/people/krishna…
Super away day with the Rare Variants team @ExeterMed today - interesting scientific discussions and a beautiful walk along the Teign valley in gorgeous Autumn sunshine!
New paper in @AJHGNews investigating the phenotypic spectrum of dual diagnoses in developmental disorders - doubly unlucky patients with two independent genetic conditions. Lovely work from two @ExeterMed students, plus @kartikchundru @HelenVFirth. doi.org/10.1016/j.ajhg…
Congratulations @DrElisaDeFranco !
So delighted to see @DrElisaDeFranco one of our RDLawrence fellows receive the Minkowski award for her excellent genetic work on neonatal diabetes. #EASD2024
Thanks #EASD2024 for allowing to present exciting data on MODY! New biomarker in MODY - @AnkitArni Thur 12:45, short oral-5 What underlies the difference in MODY features: J Leech, Fri 10:30, Berlin Hall False MODY genes and new mutations: A Sriram, Fri 10:45, Berlin Hall
Day 1 & it's already amazing! #EASD2024
Amazing audience ! So thankful for ABCD for this opportunity. Always pleasure to talk about MODY to hard working and compassionate and committed colleagues across the UK ! Because of these amazing clinicians we have the largest cohort of MODY and can do exciting research.
Professor @Kash_A_Patel gives an informative update on MODY - new test, bad genes and an old gene with a new twist. Outlining important take home messages on T1D genetic risk scores, neonatal diabetes and MODY genetic testing. #ABCDiab2024
Estimating the probability of disease for people carrying a genetic variant - known as penetrance - is empowered by large population cohorts, but *very* easy to screw up. So @carolinefwright and friends (including me) explain how to do it right.
Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in @NatureGenet - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd
Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in @NatureGenet - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd
Thought provoking presentation on common #T2DM variants influencing #Monogenic #Diabetes by @Kash_A_Patel at #ADASciSessions #ADA2024
Excited to talk about impact of common variants in monogenic diabetes at #ADA2024 -thanks for the invite @ADA_DiabetesPro . I will share some new data. Come and join in W207 at 3:15