Jasmin Hopkins

Postdoctoral Research Associate at @UniofExeter, studying the genetics of Hyperinsulinism

[Jasmin Hopkins @JJ_Hopkins_]

Excited to announce that I passed my viva! 🎉
A huge thank you to my examiners @IndiBanerjee Emma Baple, and chair @SarahIBEx
A special thanks also goes to my supervisors @TomLaver @flanagan_se @mbjohnson_
So happy to be continuing my research in #hyperinsulinism as a postdoc 🧬

[ExeterGenomes @ExeterGenomes]

Come and hear our plans for improving turnaround times and diagnostic yield on the rapid sequencing service @RDExeter @SWGLH

[Jasmin Hopkins @JJ_Hopkins_]

Comparing the predictive power of the in-silico tool #REVEL on loss of function vs gain of function variants, pre-print now available on @medrxivpreprint

[medRxiv @medrxivpreprint]

REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variants https://t.co/JSLmcrm8ef #medRxiv

[Jasmin Hopkins @JJ_Hopkins_]

While I’m here, check out our paper published in #JCEM

A systematic screen of individuals diagnosed with #congenitalhyperinsulinism outside of infancy, showing that HI diagnosed in childhood can be #monogenic

https://t.co/Gi2dOoyudW

[Jasmin Hopkins @JJ_Hopkins_]

A huge thank you to @DMM_Journal for awarding me a DMM Conference Travel Grant to attend this conference

#DMMgrants #ESHG2023 @eshgsociety

[Jasmin Hopkins @JJ_Hopkins_]

Excited to be presenting our findings on one of the first examples of a genotype-phenotype association for a monogenic disorder in the non-coding genome at the @eshgsociety conference in Glasgow #ESHG2023 #hyperinsulinism

[Luke Pilling @lcpilling]

🗣️11 talks and 12 posters by @ExeterMed colleagues at this weekend's @eshgsociety 🧬 meeting in Glasgow

Very excited for the science and networking... less so the 7.5hr train! 🚆

#ESHG #ESHG23 #ESHG2023 #genetics #science #health @uniofexeHLS

[Nature Genetics @NatureGenet]

🎉 ONLINE @NatureGenet
📰 Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
👫 @flanagan_se and team @uniofexeHLS @UniofExeter @Exeter_Diabetes
⬇️
https://t.co/MRc48L6Z66

[Sarah E. Flanagan @flanagan_se]

After years of searching, we have finally found it – a new, common genetic cause of #congenitalhyperinsulinism Until now these disease-causing variants have remained frustrating elusive, they had been hiding deep in the non-coding genome @uniofexeHLS @UniofExeter @Exeter_Diabetes

[Diabetologia @DiabetologiaJnl]

.@BeccaClare90 et al show islet autoantibodies very rare in monogenic neonatal diabetes, even with HLA risk or in cases with extreme beta cell ER stress @ExeterMed @diabetesgenes @RAOram @mbjohnson_ #ExeterDiabetes https://t.co/VbSgNr4Hm7🔓

[Andy Wood @drarwood]

The Exeter contingent have made it to Lille. A few drinks to catch up with the team before the #SGGD2022 meeting tomorrow.

[CHI @congenitalhi]

Important new findings on a genetic cause of congenital hyperinsulinism from @HIgenes @ExeterMed - read more: https://t.co/voYaSqVbxj ⁠
⁠
#CongenitalHyperinsulinism #Hyperinsulinism #Hypoglycemia #Genetics #Research #RareDisease

[Sarah E. Flanagan @flanagan_se]

I am excited to share the latest genetic findings from the Exeter @HIgenes team; non-coding mutations affecting the regulation of the pancreatic beta-cell disallowed gene HK1, are a common cause of #congenitalhyperinsulinism https://t.co/RgGbFb677c
@congenitalhi @ExeterMed (1/3)

[Dr Tom Hewat @TIHewat]

Really exciting work to have been a part of in the @HIgenes team, showing that non-coding mutations affecting a regulatory region cause aberrant expression of a gene normally disallowed in the beta cell, HK1, leading to #hyperinsulinism

[Jasmin Hopkins @JJ_Hopkins_]

An exciting new genetic discovery 🧬 Non-coding mutations cause aberrant expression of a beta-cell disallowed gene and #congenitalhyperinsulinism. Pre-print accessible via the link below @HIgenes https://t.co/BJH9r1J07Q

[Sarah E. Flanagan @flanagan_se]

Delighted to report that Exeter’s partnership with @congenitalhi has enabled >550 individuals with #hyperinsulinism from 54 countries worldwide to gain access to genetic testing #nobarriers See our poster at #ESPE2021Online

[Jasmin Hopkins @JJ_Hopkins_]

It was great to have the opportunity to present a poster at #ESPE2021Online, highlighting our recent work on monogenic hyperinsulinism diagnosed in childhood 🧬

[Sarah E. Flanagan @flanagan_se]

Fantastic poster presentation from @HIgenes very own @JJ_Hopkins_ Monogenic hyperinsulinism accounts for 24% of diagnoses in those presenting after 12 months who were referred for genetic testing. #ESPE2021Online

[Dr Tom Hewat @TIHewat]

And for more from the @HIgenes team, @JJ_Hopkins_ is presenting on childhood-presenting HI in a simultaneous poster session, and @flanagan_se is talking shortly after in Symposium 7: both are really interesting talks!

[Dr Tom Hewat @TIHewat]

If you're attending #espe2021online, I'll be presenting work from the @HIgenes team on how we can use the clinical features of patients with HI to work out the likelihood of a KATP channel mutation - I'm part of the Diabetes B poster tour that starts in just under 20 minutes.

[CHI @congenitalhi]

Learn about our unique partnership with @ExeterMed that has enabled over 500 patients from dozens of countries to receive a genetic diagnosis of congenital hyperinsulinism free of charge in the Poster Hall # P2-244 at #ESPEOnline2021 #PedEndo #EndoTwitter

[Sarah E. Flanagan @flanagan_se]

Fantastic talks from @ExeterMed’s @JJ_Hopkins_ and @TIHewat at the @congenitalhi #CHIResearch2021 conference. Using genetics to increase understanding of the different ways that individuals can present with #hyperinsulinism