Multinational research group🇷🇴🇩🇪🇹🇷🇰🇪 #RAS #oncogenes #RASopathy #CostelloSyndrome #NoonanSyndrome #LZTR1 #CFCS #rarediseases #SeltenenErkrankungen

Ulm, Germany
Joined January 2022
Postdoc position at @RoselliLab available! 2+ years on traumatic brain injury innovative pathomechanisms! Please share!
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Another KRAS inhibitor enters the clinic. This is @Boehringer orally bioavailable multiKRASi BI-3706674 currently undergoing dose escalation in WT KRAS amplified upper GI cancers. clinicaltrials.gov/study/NCT… Cc: @DavidHongMD @DrShubhamPant @timheff5 @norbertkraut1 @gerlach_d
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What's the latest news from #RASopathies Network??✅✅2023 Q4 Newsletter - mailchi.mp/0ea68e177a87/2021…
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Why are ppl with #RASopathies so lean? @CirsteaLab shares new work on adipose tissue homeostasis in #costello syndrome.
Great #RASopathies meeting organised by @RASopathiesnet, presenting our yet unpublished amazing work on #metabolism in #CostelloSyndrome by @mryfdn. Promoted our @EURAS_Project initiated by @Syngap1Germany.
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Congratulations 🎉 Very well-deserved!
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Here authors use 3D bioartificial cardiac tissue to study how disease-associated RAF1 variant S257L affects sarcomere structure, contractile behavior, Ca2+ handling, and intracellular signaling. 🫀🫀 nature.com/articles/s42003-0…
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🧬🩺🧠👤🫀🦴👁️🦵🏅 Call for ABSTRACTS: 8th Int'l #RASopathies Symposium 7/21-7/23 in Denver, CO, USA Trainee and Early Stage Investigator Award Deadline May 14, 2023 $ support available #RareDisease #MedTwitter #Genetics #phdchat #AcademicTwitter #postdoc #advocacy
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@rarediseaseday @RareDiseases #RASopathies as a group are among the most common set of #rarediseases #Noonansyndrome and #NF1 are estimated to affect ~1:1000-1:3000 people 🤯
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Hot off the press! Latest review from our postdoc @katherineawood9 and Prof @AGoriely @MRC_WIMM @RDMOxford @UniofOxford in Fertility and Sterility - “The impact of paternal age on new mutations and disease in the next generation” sciencedirect.com/science/ar…
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Next week, is the virtual European Meeting on Rare Disorders of the RAS-MAPK Pathway.
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Hi RAS Researchers, Clinicians, Pharma! We would LOVE your help by sending in a quote (or 3) in prep for our Giving Tuesday campaign. More money raised = us having a bigger impact to improve the lives of those affected. Reply here or send to [email protected] THANK YOU
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Today, we are starting Newborn 👶 Screening Awareness month! Do you want to learn more? Every Thursday in September, we will share our work on Newborn Screening! #NewbornScreeningAwarenessMonth
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Calling all RASopathies families - we would LOVE to you take part in our new project showing the world the joys and pleasures that brings all together by having a RASopathy , both the positive effects of the girl/boy/woman/man —-> NEXT TWEET BELOW
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Our new preprint is here! Introducing the #PRECGARE (PREcision Genetic Counselling And REproduction) study, work which we believe demonstrates a transformative vision for personalised reproductive genetic counselling - a 🧵 (1/n)
The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation biorxiv.org/cgi/content/shor… #bioRxiv
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Signing off now! Visit our website for everything you need to know about how to get involved in #UndiagnosedChildrensDay tomorrow! undiagnosed.org.uk/ucd2022-g… #PINKathon #UCD2022 *MI
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Fill in the Rare Disease Day feedback survey and help shape the future of the global campaign! It will take you less than 3 minutes and will help us improve for Rare Disease Day 2023! 👉 Fill out the survey today: cutt.ly/pSWV8xn
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So frickin cool!
Small but mighty! This is a video of a killer T cell of the immune system destroying a monstrous ovarian cancer cell. I recently captured this data on a spinning disc confocal microscope.
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Rund 4 Mio. Menschen in Deutschland leiden an seltenen Krankheiten. Spezielle Hilfe bieten Zentren für Seltene Erkrankungen (ZSE) 🏥 - diese werden jedoch nicht ausreichend unterstützt 💰 Eine #Petition fordert eine bessere Finanzierung. Was sagst du? ✍️ openpetition.de/zse
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#noonansyndrome resource Noonan syndrome: improving recognition and diagnosis adc.bmj.com/content/early/20…
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