henrike heyne

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

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

@egatkinson that’s so sweet!

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

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 https://t.co/CXm7VK65Ja

[henrike heyne @HHeyne]

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".

[Doc Edge @DocEdge85]

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

[Sumaiya Iqbal @Sumaiyalqbal]

📣 We are seeking a part-time, 20 hrs/week, UI/UX developer/SWE consultant (or paid affiliate) in the Genomics 2 Proteins portal (https://t.co/x5Pf7t0FwK) project. The required skills are React.js and Google Cloud services. Contact me @ <sumaiya@broadinstitute> if interested!

[henrike heyne @HHeyne]

@ewanbirney @nickywhiffin @GenomicsEngland thanks!

[henrike heyne @HHeyne]

@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…

[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)
https://t.co/Ex5hXK7My1

[henrike heyne @HHeyne]

@ChristelDepienn Wow, congrats! 😊

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

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 https://t.co/QPeYu5KmH5 in @NatureComms.
summary in German here: https://t.co/JPAePghjTn
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: https://t.co/0O6Yb1SOuq

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

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

[henrike heyne @HHeyne]

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

[Anshul Kundaje @anshulkundaje]

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.