RASopathies Network USA

Online information evening and update on the patient registry for all affected families with CFC-syndrome, Costello syndrome and Noonan syndrome. October 10th, 20:30-21:30 (CET Berlin Time) The event will be in English. There will also be a separate event in German. Here is the link to join our online event via MS-Teams: <https://lnkd.in/ddS_2K4a> Meeting-ID: 358 995 217 221 Code: JDbudU #rasopathies #noonan #costello #cfcsyndrome RASopathies Network USA

CURE ID #rasopathy survey is HERE! Have you used medication like MEK or mTOR inhibitors to treat a condition linked to #RASopathies, #noonansyndrome, #cfcsyndrome, #costellosyndrome, or other? CURE ID will allow you to share your #realworld #treatment experiences w/ medication used off-label to treat a condition. Collected data helps to track outcomes like how well treatment is working, side effects, etc. JOIN US for Q&A on how to access & use CURE ID. We will have parent testimonials and experts from NCATS and Cincinnati Children's Hospital to walk you through the survey purpose and why it's so important. Scan the QR code to register for this discussion. #repurposing #raredisease

#Researchers, for something that has been considered “undruggable” until recently, the research around KRAS has come a long way. And Boehringer Ingelheim has been at the forefront of research all along. And this is highly relevant as activating mutations in KRAS are prevalent in patients suffering from solid tumors and other RASopathies. An inherent challenge of targeting KRAS with small molecules is the wide range of mutations that lead to oncogenic activation. Hence, the discovery of ACBI3, a selective, potent, and in vivo active pan-KRAS proteolysis targeting chimera (PROTAC) degrader represents a welcoming addition in the armamentarium to address this important cellular signaling transducer.   ACBI3 has been discovered based on an intelligent structure-based design approach guided by optimization of VHL:PROTAC:KRAS ternary complex stability and durability. KRAS degradation through ubiquitin ligase recruitment enables a greater than 10-fold higher potency compared with that of target inhibition and results in prolonged suppression of MAPK signaling. The discovery of ACBI3 is another example of the fruitful collaboration between the Centre for Targeted Protein Degradation at the University of Dundee and Boehringer Ingelheim. Congratulations to Johannes Popow, William Farnaby, Andreas Gollner, Christiane Kofink, Peter Ettmayer, and Alessio Ciulli and all other authors for their excellent paper, part of the latest edition of Science Magazine. Further good news: Soon, we will make ACBI3 available on #opnMe to foster further independent research ->Please stay tuned https://lnkd.in/eqfYTECJ #OpenScience

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Find Out More! We will present a webinar on the What? Why? & How? of the CURE ID #RASopathy survey for collecting evidence on the use of repurposed drugs for these conditions. Coming October 27.

The start of a new era! 🚀 We are thrilled to announce that the #OpenAcademy2025, launching under the European Rare Diseases Research Alliance (ERDERA) partnership, is now accepting applications! Open to patient advocates and PhD/post-PhD researchers, the Open Academy Schools offer a blended learning approach comprised of online learning courses, webinars and in-person training. Our Schools on Medicines Research & Development and Scientific Innovation & Translational Research are designed with expert trainers to deepen your knowledge and equip you with the skills to drive change. This year, we are also introducing a new online training on data management, ethics and AI in rare disease research! Learn more about what is on offer in this new programme! ➡️ https://lnkd.in/eadHF6Rn #training #RareDiseases #research #advocacy #MedicinesDevelopment

Mosaic and germline #RASopathies due to pathogenic variants that result in upregulation of the #RAS #MAPK signaling pathway are the most common causes of CCLA (Central Conducting Lymphatic Anomalies). Take Note: Proposers' Day is 10/1/2024 (hybrid) Get involved in brainstorming solutions for #lymphatic and #vascular anomalies in #Noonan #Costello and other #RASopathy syndromes. #MEK inhibitors are potential #therapeutic options. Spread the word to your networks and specialists. Chiara Leoni Miikka Vikkula Jesús Lacal, PhD J. Elliott Robinson, MD, PhD Marielle Yohe Maria Kontaridis Darryl B. McConnell Hakon Hakonarson Alessandro Mussa Ion Cristian Cirstea

ICYMI: Check out the Lymphatic Education & Research Network symposium featuring Program Manager Dr. Kim Steele talking about her Groundbreaking Lymphatic Interventions and Drug Explorations (GLIDE) program: https://lnkd.in/ebzCrKue

We’re pleased to announce the application dates for our 2025 research grant programs are now available! The Children's Tumor Foundation provides essential funding to early-career researchers and early-stage projects that are driving innovation in NF research and treatment. Mark your calendar for the available funding opportunities below: 🔬 Young Investigator Award (YIA) Letter of Intent (LOI) Open: November 1 – December 2, 2024 💊 Drug Discovery Initiative (DDI) Application Open: January 6 – February 3, 2025 🏥 Clinical Research Award (CRA) Letter of Intent (LOI) Open: January 13 – February 10, 2025 🔗 For more information, please visit: https://lnkd.in/gWnt_A7J. #endnf #raredisease #research #grants