Junge Humangenetik
@juhumgen.bsky.social
Initiative of young human geneticists in Germany.
Genetic counselors, clinical & basic researchers.
Views are our own.
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
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
November 10, 2025 at 9:20 PM
🚨 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
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
www.linkedin.com/posts/univer...
be
#ukgm | Universitätsklinikum Gießen und Marburg GmbH (UKGM)
Die FUSE Hessen e.V. lädt ein zur Informationsveranstaltung „Unerkannte und Seltene Erkrankungen im Fokus: Wege in die Zukunft“ am 25. Oktober 2025 von 10 bis 15 Uhr im Auditorium - UKGM Marburg.
Die...
www.linkedin.com
October 23, 2025 at 3:49 PM
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
www.linkedin.com/posts/univer...
be
Reposted by Junge Humangenetik
Nature’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 🧪
27 things we wish we’d known when we started our PhDs
Nature’s survey of PhD candidates reveals hard-won wisdom on choosing supervisors, managing mental health and surviving academic culture.
go.nature.com
October 13, 2025 at 1:29 PM
Nature’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 [email protected] for login details.
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 [email protected] for login details.
October 9, 2025 at 8:15 AM
#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 [email protected] for login details.
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 [email protected] 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
October 9, 2025 at 10:49 AM
@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...
jobs.silkroad.com/NYGenome/Car...
Postdoctoral Research Associate, Lappalainen & Sanjana Labs - 101 Avenue of the Americas, 7th Floor, New York, New York - New York Genome Center
Find a career with New York Genome Center
jobs.silkroad.com
October 9, 2025 at 9:23 AM
OMG, what a great opportunity!
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
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
October 9, 2025 at 9:07 AM
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
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
Congratulations to the Best Thesis Winners, Jana Henck & Julian Milosavljevic 💐
April 4, 2025 at 11:27 AM
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
April 3, 2025 at 8:27 AM
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
Reposted by Junge Humangenetik
Now 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 ?
Anyone else attending #gfh2025 and wanting to meet, e.g. at the booth of @juhumgen.bsky.social ?
April 2, 2025 at 3:38 PM
Now 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 ?
Anyone else attending #gfh2025 and wanting to meet, e.g. at the booth of @juhumgen.bsky.social ?
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
April 2, 2025 at 9:11 AM
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
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
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
#HumanGenetics #IncontinentiaPigmenti #XInactivation #LongReads
February 19, 2025 at 10:49 AM
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
ONT sequencing as a tool for precise variant mapping in the IKBKG/ IKBKGP1 locus and detection of aberrant XCI
Reposted by Junge Humangenetik
Most 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...
www.nature.com/articles/s41...
A potent epigenetic editor targeting human PCSK9 for durable reduction of low-density lipoprotein cholesterol levels - Nature Medicine
Epigenetic editing of PCSK9 in the liver, designed to induce DNA methylation and silence gene expression, achieved long-lasting reductions in LDL cholesterol levels in both transgenic mice expressing ...
www.nature.com
February 10, 2025 at 4:01 PM
Most 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...
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/
Diversity and consequences of structural variation in the human genome - PubMed
The biomedical community is increasingly invested in capturing all genetic variants across human genomes, interpreting their functional consequences and translating these findings to the clinic. A cru...
pubmed.ncbi.nlm.nih.gov
January 30, 2025 at 2:49 PM
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/
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...
😍
newn.cam.ac.uk/newnham-news...
November 20, 2024 at 7:57 AM
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...
😍
newn.cam.ac.uk/newnham-news...
Reposted by Junge Humangenetik
Mit dem Wissen, was Genomdaten leisten können, würdet ihr eure Daten teilen? Gedanken gerne weiterhin in die Kommentare!
1️⃣ <a href="https://poll.blue/p/EP4URS/1" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">Ja
2️⃣ <a href="https://poll.blue/p/EP4URS/2" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">Nein
📊 Show results
1️⃣ <a href="https://poll.blue/p/EP4URS/1" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">Ja
2️⃣ <a href="https://poll.blue/p/EP4URS/2" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">Nein
📊 Show results
February 13, 2024 at 12:41 PM
Mit dem Wissen, was Genomdaten leisten können, würdet ihr eure Daten teilen? Gedanken gerne weiterhin in die Kommentare!
1️⃣ <a href="https://poll.blue/p/EP4URS/1" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">Ja
2️⃣ <a href="https://poll.blue/p/EP4URS/2" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">Nein
📊 Show results
1️⃣ <a href="https://poll.blue/p/EP4URS/1" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">Ja
2️⃣ <a href="https://poll.blue/p/EP4URS/2" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link" target="_blank" rel="noopener" data-link="bsky">Nein
📊 Show results
Reposted by Junge Humangenetik
The new FlyBase paper is out!
FlyBase: updates to the Drosophila genes and genomes database
academic.oup.com/genetics/adv...
FlyBase: updates to the Drosophila genes and genomes database
academic.oup.com/genetics/adv...
academic.oup.com
February 8, 2024 at 8:30 PM
The new FlyBase paper is out!
FlyBase: updates to the Drosophila genes and genomes database
academic.oup.com/genetics/adv...
FlyBase: updates to the Drosophila genes and genomes database
academic.oup.com/genetics/adv...
Reposted by Junge Humangenetik
It's only a temporary space until we renovate a place for you
February 9, 2024 at 5:31 AM
It'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
Wie ist die Weiterbildungssituation der NaturwissenschaftlerInnen in der Humangenetik in Deutschland...
Article Wie ist die Weiterbildungssituation der NaturwissenschaftlerInnen in der Humangenetik in Deutschland, und wie erreichen wir eine staatliche Anerkennung der Weiterbildung zur/zum Fachhumangenet...
www.degruyter.com
February 7, 2024 at 4:16 PM
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
Reposted by Junge Humangenetik
Excited 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...
Provider-reported experiences, barriers, and perspectives on genetic testing as part of autism diagn...
Several professional organizations recommend conducting genetic testing as part of the autism diagnosis process, as it can provide additional information and benefits for autistic people and their fam...
journals.plos.org
February 6, 2024 at 9:16 PM
Excited 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 Humangenetik
Seit 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...
January 29, 2024 at 12:26 PM
Seit 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 Humangenetik
New 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...
www.nature.com/articles/s41...
January 18, 2024 at 8:59 AM
New 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...
www.nature.com/articles/s41...
Never! 😅
I could probably close about half of these tabs…
January 16, 2024 at 9:48 AM
Never! 😅