Junge Humangenetik
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Junge Humangenetik
@juhumgen.bsky.social
Initiative of young human geneticists in Germany.
Genetic counselors, clinical & basic researchers.
Views are our own.
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...
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Breakfast in the Snow
Dr. Dorothy Andersen’s work paved the way for new treatments of cystic fibrosis that have turned a deadly disease into a treatable condition.
www.lostwomenofscience.org
October 9, 2025 at 9:09 AM
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.
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October 9, 2025 at 9:08 AM
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)
April 3, 2025 at 9:13 AM
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?
April 3, 2025 at 9:12 AM
Did you know that the Iceman had tattoos, and there is some evidence that they were done to mark acupuncture points?
April 3, 2025 at 8:31 AM
We can't wait to see you at our booth on the exhibition floor! Get your own button and join the Junge Humangenetik 🫶
April 2, 2025 at 1:26 PM
We might have forgotten your favourite website, but you never will! Just let us know and add it to the list. //TB
April 2, 2025 at 9:11 AM
You're using site shortcuts, but getting tired of browsing all the websites one by one? Then check out the Instant Multi Search Chrome extension. It might be exactly what you need.

chromewebstore.google.com/detail/aamga...
April 2, 2025 at 9:11 AM
...So instead of opening Pubmed and searching for your gene of interest, just tell your browser to take you straight to the results. For me, it's just "p" + Space + [genesymbol]. You have to set your browser settings first, of course:

support.google.com/chrome/answe...
April 2, 2025 at 9:11 AM
This has nothing to do with genetics, but everything to do with browsing the internet. You can boost your search efficiency by using "site shortcuts" in your browser's address bar (omnibox)...
April 2, 2025 at 9:11 AM
And AutoPVS1 guides you through the PVS1 decision tree really quickly. Then there's VarChat, a chatbot that classifies your variant for you. I guess there is no perfect automation of classification, so always double check 🕵️‍♀️

autopvs1.genetics.bgi.com
varchat.engenome.com
April 2, 2025 at 9:11 AM
It can really be a pain to classify a variant - all those criteria and specifications...😱

Did you know that there is a registry where you can easily find specifications for your gene of interest?

cspec.genome.network/cspec/ui/svi/
April 2, 2025 at 9:11 AM
...or curations of the "clinical exome" like MorbidGenes & PanelApp Australia (they are super fast at extracting the latest gene disease association)

morbidgenes.uni-leipzig.de
panelapp-aus.org
April 2, 2025 at 9:11 AM