lecturer at HPI, adjunct faculty HPI MS NY. previously @FIMM_UH @broadinstitute @MGH_RI. clinical genomics, precision medicine, epilepsy. @hheyne.bsky.social
Potsdam, Germany
Joined April 2014
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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
![Fig. 3: In each panel, on the left are density curves that display how samples are partitioned into six bins of PRS standard deviations. Survival curves in the middle give the cumulative epilepsy incidence (y-axis) across time (x-axis [years]) stratified for epilepsy PRS bins. The rightmost forest plots show epilepsy risk of each epilepsy PRS bin compared with the rest of the cohort. (A) GGE (n = 924) across lifetime, (B) GGE (n = 266) after an unspecified seizure, (C) NAFE (n = 5509) across lifetime, (D) NAFE (n = 1290) after an unspecified seizure. In (A, B), we investigate PRS-GGE, in (C, D), PRS-NAFE.](https://pbs.twimg.com/media/GTuvoP-XcAAbmDB.jpg?name=orig)
ALT Fig. 3: In each panel, on the left are density curves that display how samples are partitioned into six bins of PRS standard deviations. Survival curves in the middle give the cumulative epilepsy incidence (y-axis) across time (x-axis [years]) stratified for epilepsy PRS bins. The rightmost forest plots show epilepsy risk of each epilepsy PRS bin compared with the rest of the cohort. (A) GGE (n = 924) across lifetime, (B) GGE (n = 266) after an unspecified seizure, (C) NAFE (n = 5509) across lifetime, (D) NAFE (n = 1290) after an unspecified seizure. In (A, B), we investigate PRS-GGE, in (C, D), PRS-NAFE.
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Great to see @FrancescaRissom present on her work on ion channel variant prediction @gmdsEV, only one year into her PhD #proudPI
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/10.1101/…
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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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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/d41586-0…
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/s41467-0… in @NatureComms.
summary in German here: teapaw.org/HPI_DE/status/18182263…
twitter summary below. 1/6
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/jahrgaenge/2024/…
Amelie Fritz on sex differences in many human diseases -> disentangling phenotypic and environmental components
-> compare phenotypic and genetic correlations, —> mostly shared genetic architecture betw. sexes but more differences in environmental effc.
#eshg2924
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interesting talk by Sara Ometto -> extracting latent phenotypes from cardiac MRIs incl. time component. integrating with GWAS overlaps with loci affecting also atrial fibrillation, T2D etc
#eshg2024
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Come to A8 -> Large Scale Genetic Association Studies - very nice session chaired by @KristinTsuo and Carlo Maj
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#eshg2924 great work right now in room A8 by @flassen_, PhD student with @ceclindgren @astheeggeggs on compound heterozygous effects in the UK Biobank
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#eshg2024 cool talk by Analabha Basu on WGS of 5750 Indians >genome india project. populations genetically cluster according to languages, ethnic identities.
fragmented population, some endogamy >> rare disease variants enriched to higher frequencies
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#eshg2924 Katherine Kentistou on genetic (rare+cmn) effects on puberty timing -> new findings >> GPR83 interacts with MCR3 experimentally/genetically >> new rare variant genes (independent of BMI) >> some related effects of puberty timing and BMI
#eshg2924 great talk by first year PhD student Kilian Salomon on in-silico prioritisation of open chromatin to detect activating variants goal: prioritise variants for experim. testing. how: use Enformer model trained on ENCODE data. results: can enrich significant effects 2-3x
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#eshg2924 now talk by andrew sharp from @MountSinaiNYC about methylated repeat expansions (such as FrX) -> difficult to detect with sequencing
-> 28 GC-rich repeat expansions -> PheWAS in @uk_biobank -> recapitulate known assoc. of C9orf72 with ALS traits
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v. cool new finding >> common (1 in 860) GCC expansion in AFF3 promotor -> educational attainment effect as large as known CNVs like 22q. validated in @GenomicsEngland. but incomplete penetrance
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#eshg2924 now talk by @konradk about how we can use rare variants to learn about common diseases.
some takeaways from large biobank studies @uk_biobank (-> genebass.org) now @AllofUsResearch -> more diversity!
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#eshg2024 - very excited to support the great work of my team members. Check out posters by @andrea_eoli at 13:00 (P11.090.A) and @JulianWanner (P07.002.B) and Nicolas Walk (P23.032.B) at 15:45 on Sunday - we’re looking forward to your feedback.
10 women in STEM - pick it up and keep it moving 😊 @Ilona_Krey @ChristelDepienn @SWeckhuysen @HeidiRehm @ksamocha @ninajmars @egatkinson @genetisaur @weizhouw @hilsomartin
10 women in STEM - pick it up and keep it moving 😊
@k_breininger @cristinareschke @silvianeurompi @JeanneTPaz @JCWong_PhD @SaraBaldassari4 @HHeyne @SilviaBudday @LMPrida @sophieadler
How did I forget @Sumaiyalqbal and so many more! Too many great women in STEM… 😊
highly recommended Postdoc opportunity for statistical genetics if you want to work with a very smart and kind mentor in the Boston area.
🌟 **Join Our Lab wzhoulab.com/ as a Postdoc!🌟 Passionate about developing and applying novel statistical methods to study genetics of disease progression and integrating omics data? Explore exciting opportunities and apply now: shorturl.at/ahIY3 or email me🧬
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Very interesting question studied by @EmilieWigdor:
Why do some rare variant carriers develop disease and some don't? Do common variants influencing gene expression (cis-eQTLs) modify that? Answer: they found little evidence for that, but it's also difficult (see limit.)...
Our new pre-print “Investigating the role of cis-eQTLs in modifying the penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders” (NDDs) is up on medRxiv! Three interesting findings led to this study: (1/12)
medrxiv.org/content/10.1101/…
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