Junge Humangenetik
Initiative of young human geneticists in Germany.
Genetic counselors, clinical & basic researchers.
Views are our own.
- Reposted by Junge Humangenetik🚨 NEWS: @genomescience.bsky.social awarded $14.5M by the NIH to lead Human Virome Program data center! The team will build tools to explore how viruses living in and on our bodies shape health. 🦠💻 🔗 bit.ly/43Z3l9f #NIH #Research #Genomics #Science #News #MedEd #STEM
- If you have not yet decided how to spend this rainy Saturday and have an interest in rare diseases, here is a fantastic opportunity: www.linkedin.com/posts/univer... be
- Reposted by Junge HumangenetikNature’s 2025 PhD survey asked doctoral candidates worldwide what advice they would give to someone considering a similar degree. Respondents gave advice on choosing supervisors, managing mental health, and surviving academic culture. #Academicsky 🧪
- Reposted by Junge Humangenetik#Seminar Join our #MEEGene seminar at @leibnizlib.bsky.social on zoom next Tuesday, Oct 14, 3pm CEST and listen to Laura Tensen @lauratensen.bsky.social from @unigreifswald.bsky.social talking about comparative #genomics in red #leopards. Email meegene@leibniz-lib.de for login details.
- Reposted by Junge Humangenetik@nicholemather, not on #Bluesky, on the appointment as new Scientific Advisory Board head at the @wellcometrust.bsky.social Genome Campus in Cambridge
- OMG, what a great opportunity!
- We're hiring! My team at @nygenome.org is looking for a statistical genetics postdoc to decipher functional architecture of complex diseases from cutting-edge CRISPR+scRNA-seq data, with @nevillesanjana.bsky.social lab. Happy to meet at #ASHG25, apply here jobs.silkroad.com/NYGenome/Car...
- Do you know the name Dorothy Hansine Andersen? She was the first researcher and physician to discover cystic fibrosis and its autosomal recessive inheritance pattern. As a pathologist, she recognised distinctive organ damage in the pancreases and lungs of deceased children with celiac disease. /1
- As these findings were atypical for celiac disease, she began collecting records of similar cases, published her findings and described the condition she named cystic fibrosis. She and her team further developed a diagnostic test and contributed to the development of life-extending treatments. /2
- Intrigued by her work? Check out the episode of the 'Lost Women of Science' podcast about Dorothy Anderson and her work on cystic fibrosis! www.lostwomenofscience.org/podcast-epis... /3
- Congratulations to the Best Thesis Winners, Jana Henck & Julian Milosavljevic 💐
- The best sessions are always those that are both educational and entertaining. Thanks to Prof Albert Zink for his wonderful dissection of the life and death of Ötzi the Iceman
- Did you know that the Iceman had tattoos, and there is some evidence that they were done to mark acupuncture points?
- Dr Valentina Coia dives into the ancient DNA analysis of the Iceman and how much it adds to our understanding of who he was and where he came from. Was he a Sardinian tourist?
- Other geneticists who liked this session also liked the following books: Die Reise unserer Gene & Hybris: Die Reise der Menschheit: Zwischen Aufbruch und Scheitern (Johannes Krause, Thomas Trappe) Human Peoples (Lluís Quintana-Murci) Mütter Europas: Die letzten 43.000 Jahre (Karin Bojs)
- Reposted by Junge HumangenetikNow on to the opening session @ #gfh2025, starting with local music! Anyone else attending #gfh2025 and wanting to meet, e.g. at the booth of @juhumgen.bsky.social ?
- Interdisciplinary and cultural experiences at the opening session of #gfh2025
- Hey young geneticists at #gfh2025, great to see so many of you here in Innsbruck.
- We can't wait to see you at our booth on the exhibition floor! Get your own button and join the Junge Humangenetik 🫶
- So, tell us, what's your approach to #variantinterpretation? We're always keen to learn about your favourite tools and websites and, of course, the lesser-known out there. Here's a start: //TB
- You need a quick overview and are looking for variant frequencies, in silico predictions, ClinVar submissions and related publications, or you want to translate your variant into other transcripts. You can use VarSome or GeneBe. Just enter your variant… varsome.com genebe.net
- Do you prefer a visualisation of your variant or region of interest? VarSome & GeneBe give you some basic info, but you can get some super helpful extras in the protein browser from @deciphergenomics.bsky.social (like predicted NMD escape regions & regional constraints)
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View full threadWe might have forgotten your favourite website, but you never will! Just let us know and add it to the list. //TB
- Very helpful publication if you are struggling with the IKBKG/IKBKGP1 locus in patients with incontinentia pigmenti: ONT sequencing as a tool for precise variant mapping in the IKBKG/ IKBKGP1 locus and detection of aberrant XCI
- We solved a puzzling case of Incontinentia Pigmenti by phasing a pathogenic variant in IKBKG to the preferentially inactivated X chromosome and at the same time discriminating gene from pseudogene using #Nanopore long reads. #HumanGenetics #IncontinentiaPigmenti #XInactivation #LongReads
- Reposted by Junge HumangenetikMost genome editing work to date has been DNA based. A new paper out today assessed a single dose of epigenetic editing (thru PCSK9) for marked (~70%) and durable reduction of LDL cholesterol [in non-human primates] www.nature.com/articles/s41...
- The best introduction and review of structural variants, their detection and relevance that I have read in a long time /tb pubmed.ncbi.nlm.nih.gov/39838028/
- Certain copy number variants (CNVs) are frequently documented in cases of neurodevelopmental disorders, as well as in unaffected parents or in the general population (gnomAD), suggesting a reduced penetrance.
- The following overview provides a comprehensive and current analysis of common deletion and duplication syndromes, along with their respective penetrance characteristics. pubmed.ncbi.nlm.nih.gov/39092588/
- Reposted by Junge Humangenetik
The blue plaque which commemorates the celebration of the discovery of the structure of DNA has finally been updated to acknowledge Rosalind Franklin. #womeninSTEM 😍 newn.cam.ac.uk/newnham-news... - Reposted by Junge HumangenetikMit dem Wissen, was Genomdaten leisten können, würdet ihr eure Daten teilen? Gedanken gerne weiterhin in die Kommentare! 1️⃣ Ja 2️⃣ Nein 📊 Show results
- Reposted by Junge HumangenetikThe new FlyBase paper is out! FlyBase: updates to the Drosophila genes and genomes database academic.oup.com/genetics/adv...
- Reposted by Junge HumangenetikIt's only a temporary space until we renovate a place for you
- This will take a little longer, so buckle up to learn more about the future of human genetics specialization for scientists in Germany! The importance of scientists in genetic diagnostics is undeniable, but what are the career prospects? A skeetorial. /1
- TL,DR: Bosses, your scientists need more support to complete the FHG within 5 years. And: They want more. Appreciation, responsibility, independence and money. We need a legal recognition of an achievable (!) FHG in Germany as a base for this. Thanks for reading to the end /11
- Reposted by Junge HumangenetikExcited to have a new paper out from my lab the EMU this week! Here is a skeet-thread of our main findings in "Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagnosis," journals.plos.org/plosone/arti...
- Reposted by Junge HumangenetikSeit 2019 gibt es die „Junge Humangenetik“ (@juhumgen.bsky.social) innerhalb der Deutschen Gesellschaft für Humangenetik. Über Ziele und Aktivitäten der Initiative sprach Bettina Dupont mit deren Sprechern Ilona Krey und Robert Meyer: laborjournal.de/editorials/2...
- Reposted by Junge HumangenetikNew research in 5-HT2A knockout mice suggests you can still get an anti-depressant effect with psilocybin (but not DOI or lisuride). Suggests the anti-depressant effects are not 5-HT2A mediated? Interesting... #neuroskyence www.nature.com/articles/s41...
- Never! 😅
- Reposted by Junge HumangenetikA beautiful study by @michelnivard.bsky.social et al. on the direct and indirect genetic effects on school achievement shows that the indirect effects act primarily via dynastic effects rather than genetic nurture. www.nature.com/articles/s41...
- Reposted by Junge Humangenetik[This post could not be retrieved]
- Reposted by Junge Humangenetik
- Reposted by Junge HumangenetikAddgene will no longer be using X, formerly Twitter. Instead, we'll be posting our 'microblogging' content here on Bluesky. blog.addgene.org/addgene-is-s...
- Reposted by Junge HumangenetikAn analysis published in Nature of more than 300 ancient genomes from Eurasia reveals a deep east–west genetic divide from the Black Sea to the Baltic, and provides insight into the distinct effects of the Neolithic transition on either side of this boundary. go.nature.com/3tM1PZs 🧪🏺
- Reposted by Junge HumangenetikAlso very useful for writers, I'd think...
- Reposted by Junge HumangenetikWe are happy to host Lukas Schrader from Münster University for our next virtual #MeeGene Leibniz_LIB seminar on Tuesday 16.01.2024 15h CET. He will talk about "The impact of transposable elements in ant evolution". If you like to join, drop us an email for the login details: meegene@leibniz-lib.de.
- Reposted by Junge Humangenetik#Befristungshöchstquote und Mindesvertragslaufzeit von 4 Jahren. Berlin macht vor, dass man nicht auf's neue #WissZeitVG warten muss, um die Arbeitsbedingungen für Postdocs zu verbessern. Ein 🧵 dazu, was davon zu halten ist und worauf es jetzt ankommt. 1/ #IchBinHanna www.jmwiarda.de/2024/01/09/h...
- Reposted by Junge Humangenetik📣It's time to sign up for Skype a Scientist 2024 We match scientists w/classrooms, scout troops, libraries, & more for conversations about science! We have a growing list of scientist volunteers. We'll match you for FREE virtual Q&As! Sign up here: skypeascientist.com/sign-up.html
- Reposted by Junge HumangenetikHere is why immunizations are important. Chicken pox comes back as shingles. CMV comes back as severe colitis. HPV comes back as cancer. EBV increasingly looks like it comes back as MS. What is SARS CoV-2 coming back as? We know it sequesters in all sorts of tissues.
- Reposted by Junge Humangenetik
- Reposted by Junge HumangenetikIt was a pleasure to chat w/ Dr. Christine Klein this podcast episode! She discussed her role in the The Global Parkinson's Genetics Program (GP2) & recent findings from her research on genetic variants related to Parkinson's disease. www.michaeljfox.org/podcast/epis... #neuroskyence #scicomm 🧪 👩🔬 🧬
- Reposted by Junge HumangenetikUnlock the Power of Correlation Analysis in Biomedical Research! Explore our latest article about the 5 essential things biomedical researchers need to know about correlation analysis. Dive in: ow.ly/p1UX50QnH37 #EditageInsights #AcademicSky #DataAnalysis
- Reposted by Junge HumangenetikThe German phrase "zwischen den Jahren" ("between the years") refers to the days between Xmas and New Year's Day. So, if your German friends don't answer the phone, remember: They are spending their holidays in a non-existing time slot between 2 consecutive years. Enjoy our language - and 2024!
- Reposted by Junge HumangenetikThe first in vivo cell level time machine! A new method for labeling and tracking single cells in the body and measuring each of their changes over time www.cell.com/cell/fulltex...
- Reposted by Junge HumangenetikReally not selling me on the chip upgrade, 23andMe 🙃 #GeneChat
- Reposted by Junge Humangenetik🧪 A survey in Nature reveals 78% of scientists don't regularly use generative AI like ChatGPT. While some, like Maxime Gauberti, await its full potential for tasks like email drafting, others like Ada Kaluzna express concerns over its impact on learning and creativity. #AcademicSky #ml
- Reposted by Junge Humangenetik[This post could not be retrieved]
- Reposted by Junge HumangenetikHas a blood test ever shown you were deficient in Vitamin D? Well, there's a story there ... Here's how Vitamin D got hyped as a miracle cure for everything & why your levels are almost certainly just fine 🧪 www.scientificamerican.com/article/how-... by @cragcrest.bsky.social
- Wow, amazing artwork! ❤️
- Look at this amazing gift! It's a stained glass macrophage in the process of phagocytosing. The texture of the glass, the colours - it is just spectacular! I've always been blessed by being surrounded by gifted people. #gratitude #immunosky
- Motivation! ☺️
- #ArtAdventCalendar day 14 is a positive cartoon about science I did a few years ago based on something a colleague said. Procreate on iPad. #sciart
- Reposted by Junge HumangenetikThey...cured lupus??? www.nature.com/articles/d41... I mean. It's a hella intense, sci-fi treatment, and we're talking only a dozen or two patients, but they have actually knocked down four different autoimmune diseases here and it...works??
- Reposted by Junge HumangenetikHi everyone! I’m looking to establish connections with professionals that work directly with patients with ADHD. An MD, PsyD, PhD, you name it! Diverse expertise is welcomed. If you’re this professional or know someone please send me a DM or email at aberrios20@stu.psm.edu. 🫶🏼 #clinicalwork #adhd
- Entdeckt die faszinierende Welt der Epigenetik und Imprintingerkrankungen! Der Kurs "Epigenetik und Imprintingerkrankungen: Grundlagen der molekulargenetischen Diagnostik" findet vom 08.-09. März 2024 in Würzburg statt und 1/2
- 2/2 richtet sich an Naturwissenschaftler*innen und Ärzt*innen in der Weiterbildung zum Fachhumangenetiker/in (GfH) und an Fachärzt*Innen für Humangenetik. Anmeldung und weitere Informationen: Akademie Humangenetik - Aktuelle Kurse akademie-humangenetik.de /be
