henrike heyne

721 posts

henrike heyne

@HHeyne

lecturer at HPI, adjunct faculty HPI MS NY. previously @FIMM_UH @broadinstitute @MGH_RI. clinical genomics, precision medicine, epilepsy. @hheyne.bsky.social

Potsdam, Germany Katılım Nisan 2014

375 Takip Edilen670 Takipçiler

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henrike heyne@HHeyne·30 Tem

We found that a high genetic generalized epilepsy PRS (PRS-GGE) increased risk for genetic generalized epilepsy (GGE) (hazard ratio [HR] 1.73 per PRS-GGE standard deviation) across lifetime and within 10 years after an unspecified seizure event. 3/6

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henrike heyne@HHeyne·10 Ara

@hcmefford @AmEpilepsySoc Congrats @hcmefford. So well deserved!!

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Dr. Heather Mefford @hcmefford.bsky.social@hcmefford·10 Ara

Thank you @AmEpilepsySoc #AES2024! I am honored and humbled to be recognized for our gene 🧬 discovery work in #epilepsy 🧠 #RareDisease!

American Epilepsy Society@AmEpilepsySoc

Congratulations to Dr. Heather C. Mefford, MD, PhD, recipient of the 2024 Basic Science Research Award!

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henrike heyne@HHeyne·17 Eki

@egatkinson that’s so sweet!

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Elizabeth Atkinson@egatkinson·16 Eki

Apparently, it’s Boss’s Day today - something I learned when my amazing team surprised me with a custom cookie cake! I’m so touched and grateful to be surrounded by such a talented and thoughtful group. ☺️

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henrike heyne@HHeyne·10 Eyl

Great to see @FrancescaRissom present on her work on ion channel variant prediction @gmdsEV, only one year into her PhD #proudPI

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henrike heyne@HHeyne·9 Eyl

Great talk by @SusanneIbing on using automated phenotype classification comparing low effort GPT-4 vs rule based approach in Crohns @gmdsEV #gmds2024 >> good to safe work? check out her preprint medrxiv.org/content/10.110…

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henrike heyne@HHeyne·9 Eyl

Great opening talks by @MI_Sedlmayr and Andreas Seidler of the common conference of 5 German scientific societies incl. #gmds #TMF2024 "Gesundheit gemeinsam"/"health together".

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henrike heyne retweetledi

Doc Edge@DocEdge85·25 Ağu

This is wrong, but there is a lot of confusion about why (thread)

Jean-François Gariépy 🧬@JFGariepy

Most people don't realize that interbreeding with other races means that strangers on the street from your own race are more related to you than your own child. Amplify this, @elonmusk and spread the knowledge!

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henrike heyne retweetledi

Sumaiya Iqbal@Sumaiyalqbal·19 Ağu

📣 We are seeking a part-time, 20 hrs/week, UI/UX developer/SWE consultant (or paid affiliate) in the Genomics 2 Proteins portal (g2p.broadinstitute.org) project. The required skills are React.js and Google Cloud services. Contact me @ <sumaiya@broadinstitute> if interested!

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henrike heyne@HHeyne·13 Ağu

@ewanbirney @nickywhiffin @GenomicsEngland thanks!

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Ewan Birney@ewanbirney·13 Ağu

@nickywhiffin @HHeyne @GenomicsEngland It really is a good news story - I didn't realise it was mainly maternal transmission scenario - but it is de novo right? So some maternal effect? pre-zygotic behaviour perhaps?

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Nicky Whiffin@nickywhiffin·13 Ağu

Thank you @HHeyne for writing this great news & views piece on RNU4-2 nature.com/articles/d4158… 🧬

henrike heyne@HHeyne

I very much enjoyed writing this @NatureNV piece on the RNU4-2 story. Please read on if you want to learn more about how a non-coding variant was discovered to be one of the most frequent causes for developmental diseases. (thx M. Rissom for sketch) nature.com/articles/d4158…

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henrike heyne@HHeyne·13 Ağu

@ewanbirney @nickywhiffin @GenomicsEngland yes it’s de novo so quite unclear where that maternal transmission effect comes from… but looking forward to any mechanisms here… i think @nickywhiffin et al argued that the variant could not be viable in sperm or some type of imprinting effect…

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Ewan Birney@ewanbirney·13 Ağu

@nickywhiffin @HHeyne @GenomicsEngland Duh- I mean pre zygotic transcription (ie, maternal effect transcription in the Oocyte?) - Actually I don't know if the splicesomal RNA comes from Oocyte or nurse cell or somewhere else

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henrike heyne@HHeyne·12 Ağu

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henrike heyne@HHeyne·2 Ağu

@ChristelDepienn Wow, congrats! 😊

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henrike heyne@HHeyne·30 Tem

@rkalviainen @NatureComms Thanks for your wonderful help, Reetta! I enjoyed working with you on this project.

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Reetta Kälviäinen@rkalviainen·30 Tem

@HHeyne @NatureComms Great effort and collaboration, thank you so much 🌹

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henrike heyne@HHeyne·30 Tem

Hi all, very glad to announce our paper on “Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events” is now out nature.com/articles/s4146… in @NatureComms. summary in German here: x.com/HPI_DE/status/… twitter summary below. 1/6

Hasso-Plattner-Institut@HPI_DE

Polygene Risikoscores können helfen, die Veranlagung für eine Erkrankung besser einzuschätzen. Dr. @HHeyne vom HPI untersuchte die Gendaten von 5.000 Individuen, um mehr Erkenntnisse über epilepsie-spezifische Polygene Risikoscores zu erlangen. 👉Mehr: hpi.de/news/jahrgaeng…

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henrike heyne@HHeyne·30 Tem

Again, a pleasure to work with data from @FinnGen_FI, also glad to collaborate with @ESTbiobank and BioMe (@HPI_MS). Thanks to great collaborators @JulianWanner @FannyDhelia @JDanOchekwa @m_reedik @APalotie @dalygene @rkalviainen 6/6

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henrike heyne@HHeyne·30 Tem

Analogously, we found significant but more modest focal epilepsy PRS burden associated with non-acquired focal epilepsy (NAFE). 5/6

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henrike heyne@HHeyne·30 Tem

The effect of PRS-GGE was significantly larger on idiopathic generalized epilepsies, in females and for earlier epilepsy onset. 4/6

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henrike heyne@HHeyne·30 Tem

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henrike heyne@HHeyne·30 Tem

Epilepsy diagnosis is often challenging. The most widely-used diagnostic tool -EEG- performs quite variably. Here, we investigated how common genetic factors (polygenic risk scores, [PRSs]) influence epilepsy risk in electronic health records of > 700k Finns and Estonians. 2/6

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henrike heyne@HHeyne·9 Tem

@platzer_k looks great. I was there during my “parental leave/ vacation” March this year. :) have a good time.

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Konrad Platzer@platzer_k·8 Tem

Taormina has that Greek theater w/ an unrivaled view of the coast & Etna… #ParentalLeave

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henrike heyne retweetledi

Anshul Kundaje@anshulkundaje·6 Tem

I'm making an open offer to any compbio grad students/postdocs who are aiming for faculty positions. If you have strong impactful research but no glam pubs & need someone to advocate for you, please get in touch. I promise u, I & a bunch of other faculty will strongly support u.

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Keşfet

@hcmefford @AmEpilepsySoc @egatkinson @FrancescaRissom @gmdsEV @SusanneIbing @MI_Sedlmayr @ewanbirney