Excited about our new paper that provides much needed info for optimal counselling for Incidental RET Variants
We answer:
How common? ~1:2000
What variants ? - mainly moderate risk
What's the risk of MTC ? - 2-20% by 75y
What happens with no intervention? - no excess death
We answer:
How common? ~1:2000
What variants ? - mainly moderate risk
What's the risk of MTC ? - 2-20% by 75y
What happens with no intervention? - no excess death
Among individuals with multiple endocrine neoplasia type 2 (MEN2), incidentally identified moderate-risk RET pathogenic variants were associated with lower medullary thyroid cancer risk. ja.ma/45GBaOh
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Incidental RET variants are widely reported but MTC risk is unclear.
This paper empowers all involved to make informed personal decision.
@ExeterMed @TheACMG @acgs_news @CR_UK @Soc_Endo @BAETS_UK @AmThyroidAssn @ThyroidBritish @ESEndocrinology @TheEndoSociety @GeisingerHealth
This paper empowers all involved to make informed personal decision.
@ExeterMed @TheACMG @acgs_news @CR_UK @Soc_Endo @BAETS_UK @AmThyroidAssn @ThyroidBritish @ESEndocrinology @TheEndoSociety @GeisingerHealth
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Kashyap Patel retweeted
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
Check out their inspiring lecture topics 👉
ow.ly/l4Kj50VQ2hz
@BrueThierry @SFEndocrino @CUH_NHS @NIHRresearch @Kash_A_Patel @ENSAT_news @AlePreteUoB @UoB_MSS
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Kashyap Patel retweeted
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
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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%
- Genetically confirmed MODY have high T2D risk
~ 24% of phenotypic variance due to common genetic changes
- polygenic background alters diabetes risk 18 to 81%
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Kashyap Patel retweeted
#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…
His project would help more people receive the right diagnosis and care. diabetes.org.uk/our-research/a…
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Our research on incidentally identified RET mutations
key findings:
1) Moderate-risk mutations are predominant in this context
2) The risk of thyroid cancer is lower in this context with these variants
medrxiv.org/content/10.110…
@carolinefwright @emma_baple @clare__turnbull
key findings:
1) Moderate-risk mutations are predominant in this context
2) The risk of thyroid cancer is lower in this context with these variants
medrxiv.org/content/10.110…
@carolinefwright @emma_baple @clare__turnbull
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3) No significant impact on all-cause mortality was observed in this context.
We hope this information proves valuable for informed risk-benefit discussions, a crucial step before any intervention.
@GeneticsSociety @ExeterMed @BritSocGenMed @UKCGG @EllardSian
We hope this information proves valuable for informed risk-benefit discussions, a crucial step before any intervention.
@GeneticsSociety @ExeterMed @BritSocGenMed @UKCGG @EllardSian
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Kashyap Patel retweeted
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 🧬⭐️🧬⭐️
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Kashyap Patel retweeted
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
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
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Oops ..Incorrect picture @ESEndocrinology .. Here is the person who truly deserves this honour royalsociety.org/people/krishna…
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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
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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
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
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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
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Kashyap Patel retweeted
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.
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Kashyap Patel retweeted
Thought provoking presentation on common #T2DM variants influencing #Monogenic #Diabetes by @Kash_A_Patel at #ADASciSessions #ADA2024
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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
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Kashyap Patel retweeted
Do you calculate #polygenic scores?
Is it tedious and time-consuming?
Try GenoPred!
Easily installed, reproducible analysis, single command line. Choice of analysis methods, diverse ancestries.
Is it tedious and time-consuming?
Try GenoPred!
Easily installed, reproducible analysis, single command line. Choice of analysis methods, diverse ancestries.
Dr @ollie_pain & Prof @cathrynlewis have launched GenoPred - a tool that allows researchers to easily calculate #polygenic scores to uncover individuals' genetic risk for certain health-related outcomes 🧬
🔗 👉buff.ly/4c1hjJu
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Kashyap Patel retweeted
Precision medicine in type 2 diabetes - our new @ExeterMed paper in @DiabetologiaJnl developing a treatment selection model for GLP1-RA & SGLT2i treatments using Bayesian Causal Forests
link.springer.com/article/10.100…
Web calc using routine clinical features: pm-cardoso.shinyapps.io/SGLT2_GLP1_cal…
link.springer.com/article/10.100…
Web calc using routine clinical features: pm-cardoso.shinyapps.io/SGLT2_GLP1_cal…
Predicting the response to GLP-1RA and SGLT2i @DiabetologiaJnl #T2D Are women better responders, and/or better at taking the medicines? The MASTERMIND consortium
link.springer.com/article/10.100… #diabetes
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Kashyap Patel retweeted
🫵 Are you an early career diabetes researcher? Want to become a leader in your field?
Apply now for our Innovators in Diabetes programme. You'll get training not usually offered in a research environment & build a vibrant support network.
The details⬇️
diabetes.org.uk/our-research/f…
Apply now for our Innovators in Diabetes programme. You'll get training not usually offered in a research environment & build a vibrant support network.
The details⬇️
diabetes.org.uk/our-research/f…
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