PhD at Human Genetics Leipzig 🧬 semi-successful gardener 🥀
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Joined June 2022
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Our MorbidGenes panel comprising all genes of diagnostic relevance is now available at morbidgenes.uni-leipzig.de/ 🧬
Also check out our recent preprint on how the panel is generated 👇
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources medrxiv.org/cgi/content/shor… #medRxiv
Robin Jauss retweeted
Reimbursement of clinical genome sequencing is about to start in Germany, and here are this quarter's climbers in the #ClinVar charts: Tuebingen, Goettingen, Bonn, Bochum, and Duesseldorf. Congrats! What do you want to see next?
Fantastic talk from our MD Student Alexandra Golod at the #GfH2023 on our research output from ~2000 trio exomes 👌👇
Many of our candidate genes have already been published 🧬 but for most, there is still some work to do 🧑🔬
Find our complete list of candidate genes on Zenodo! 👉 doi.org/10.5281/zenodo.57324…
If you see your favorite gene in our list, drop us a message to get in touch 🤙
Robin Jauss retweeted
Hey #GFH2023. I have noticed that OMIM is often the reference for gene-disease associations. Unfortunately, new curation of new genes is often a delayed. But there is hope for you from @hug_leipzig
morbidgenes.org
Robin Jauss retweeted
Indeed it was great having @ChristelDepienn for the 1st time at @hug_leipzig. Learning about repeats in 🧠 disorders & the FAME discovery story from start to finish. Many overlaps to our work & potential for collaborations… 🤝 @RamiJamra @lemke_johannes @RTJauss @DennyPopp
@ChristelDepienn @platzer_k Max Radtke @RTJauss @CaptainPsycho and I had a nice dinner and beer after a great Seminar she presented at @hug_leipzig on hunting repeat expansions. I am impressed by her work!
Robin Jauss retweeted
ClinVar analytics: let's analyze the Leipzig case in more depth. It's a team of around 8 clinician-scientists that see patients. In average, the team shares 20 variants per week with the community. Their PLU ratio is roughly 1:1:1
Robin Jauss retweeted
Here are the ClinVar charts for Q4 2022 and a lot has happened! Vizemeister ist nun wieder Tübingen vor Dresden. München schließt auf zu den Medaillenrängen. Münster rückt 5 (!) Plätze vor. Ebenfalls aufgestiegen sind Schleswig Holstein und Berlin. congrats!
🚨 Happy to share my first paper in the field of Human Genetics! 🧬 Routine diagnostics can in fact provide valuable information on disease associations & novel #MorbidGene|s. A thread & feasible recommendations for diagnostic departments with @RamiJamra:
mdpi.com/2073-4425/13/12/230…
In a retrospective evaluation of nearly 10k NGS analyses, we validate and delineate novel gene–disorder associations and provide additional evidence for rare or novel disorders 📋 The data was generated as part of our routine diagnostics, without extensive research efforts 🔬
But how exactly can clinicians in routine diagnostics contribute to the delineation of rare disorders ❓
1. Upload your variants to public databases like #ClinVar 🖥️
2. Perform regular re-evaluations 💡
3. Write case reports or contribute your variants to larger cohorts 👥
Robin Jauss retweeted
finally🤩the NovaSeq 6000 is here. Next date is the handover and introduction by @illumina for our team. We can't wait to get started! #innovation #NovaSeq
ALT Labs all around the world will soon receive the NovaSeq 6000Dx, the newest #innovation in the Illumina Dx system family and our first IVD-compliant high-throughput instrument for the clinical lab.
Robin Jauss retweeted
Work with us at the @hug_leipzig linkedin.com/jobs/view/32349…
Robin Jauss retweeted
🚨 Now out in AoO w/ our own @Stephan_HolgerD formerly at TU DD:
„14% of patients with rare cancers and/or younger age of onset carried a pathogenic germline variant. 45% of all P variants supported informed therapeutic recommendations w/ a therapeutic benefit in 40%.“ 👌 👇
In Annals of Oncology, results from the German 🇩🇪 #PrecisionMedicine 🧬🎯💊 NCT/DKTK MASTER trial inform on the association of cancer perdisposing genes and rare cancer
annalsofoncology.org/article…
Robin Jauss retweeted
🚨 Case report in @EpilepsiaJourn on a first AR #GRIN2A family by our colleagues @lemke_johannes & Vincent Strehlow w/ @SteveTraynelis.
„There are marked parallels to two previously published families w/ severe epileptic encephalopathy due to homozygous null variants in #GRIN1“
Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy onlinelibrary.wiley.com/doi/…
#epilepsy #epilepsyresearch #Genetics #recessive #GRIN2A #encephalopathy @IlaeWeb @WileyNeuro @yesILAE @EpilepsiaJourn
Robin Jauss retweeted
Our work on gene expression profiling in patients with 15q13.3 microdeletion syndrom has just been accepted for publication in Scientific Reports @SpringerNature
medrxiv.org/content/10.1101/… a concerted effort of @authors. 🧠🫂 🧾
Have a relaxing weekend! #NewsUpdate #HappyFriday – at Leipzig, Germany
ALT Started in April 2021: altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion. 15q copy number syndromes are associated with intellectual disability, autism, epilepsy, and schizophrenia, which may be determined already prenatally. For a better delineation of the dirver genes we seek differentially expressed genes, which are expressed prenatally and switched off in adult brain. Many thanks to our patients and their families for pushing the research further. Looking forward to seeing soon online and discuss with you the implications of our results.