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Excited to talk about impact of common variants in monogenic diabetes at #ADA2024 -thanks for the invite American Diabetes Association - DiabetesPro . I will share some new data. Come and join in W207 at 3:15

Thought provoking presentation on common #T2DM variants influencing #Monogenic #Diabetes by Kashyap Patel at #ADASciSessions #ADA2024

Interested in penetrance? Read our new "Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts" in Nature Genetics - including top 10 tips for avoiding errors! Link to paper doi.org/10.1038/s41588… and full PDF rdcu.be/dPjsd

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 Caroline Wright and friends (including me) explain how to do it right.

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.

Thanks #EASD2024 for allowing to present exciting data on MODY! New biomarker in MODY - Ankit Arni 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

Congratulations @DrElisaDeFranco !

New paper in AJHG investigating the phenotypic spectrum of dual diagnoses in developmental disorders - doubly unlucky patients with two independent genetic conditions. Lovely work from two Exeter Med School students, plus Kartik Chundru Helen Firth. doi.org/10.1016/j.ajhg…

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 🧬⭐️🧬⭐️

Super away day with the Rare Variants team Exeter Med School today - interesting scientific discussions and a beautiful walk along the Teign valley in gorgeous Autumn sunshine!

Oops ..Incorrect picture European Society of Endocrinology (ESE) .. Here is the person who truly deserves this honour royalsociety.org/people/krishna…

The 2025 European Journal of Endocrinology Award winner is Kashyap Patel Join Kash for his plenary lecture at the Joint Congress of ESPE and ESE 2025 👉 espe-ese-congress2025.org/espe-ese-2025-…… ESE_President Felix Beuschlein OUP Medicine MRC PPU @exetermed Wellcome Diabetes UK Euro J Endocrinology

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 Kashyap Patel for explaining the science 1in6b.com/series-3-episo… @athattersley Royal Devon NHS Exeter Med School

#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 Kashyap Patel aims to find more🔎 His project would help more people receive the right diagnosis and care. diabetes.org.uk/our-research/a…

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%

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 Thierry Brue SFEndocrinologie.org Cambridge University Hospitals NHS National Institute for Health and Care Research Kashyap Patel European Network for the Study of Adrenal Tumours Alessandro Prete Metabolism and Systems Science (MSS)