RASopathies Network
@RASopathiesnet
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A 501c3 organization; Our mission is to advance research of the #RASopathies by bringing stakeholders together. #rarediseases @rasnet.bsky.social
Altadena CA
Joined October 2014
Newly diagnosed with a #RASopathy syndrome? (#Noonan, #Costello, #Cardiofaciocutaneous, #Neurofibromatosis 1, #Legius, and others) ⬇️Here's a helpful whiteboard video to explain more
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💜🌍 Today is Rare Disease Day! 🌍💜 Together, we stand with the 300 million people worldwide living with rare diseases. In uniting on this day we can raise awareness, advocate for change, and promote a more equitable future! ⚖️ Learn more: https://t.co/AUKfGZJLJB
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Check out our upcoming event, Growing Together: Navigating the Life Stage Checklist for Families. https://t.co/QKgmdDAFzf
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Please find and follow us over on this site @rasnet.bsky.social
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Is the communications pause that's been imposed on the US government's health agencies affecting you? @statnews would love to hear about it. Please let us know.
statnews.com
Have you been affected by the Trump administration’s pause on communications, science meetings, and reviews? @statnews would like to hear from you.
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A new CDC study looking at more than 15,000 children over a 5-year period found that flu vaccination reduced the risk of flu-associated emergency department visits or hospitalization for children by about half. Read the full study here: https://t.co/JkV39qlEKk
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#MEK inhibitor!
10 𝗙𝗶𝗿𝘀𝘁-𝗶𝗻-𝗖𝗹𝗮𝘀𝘀 Drugs on Track for FDA Approval in 2025 $IONS $SNY https://t.co/A5sYNMa7HJ $RGNX $VRTX $ABBV $SWTX $ARWR $URGN $RARE Source: Maryam Daneshpour on the HR app!
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The exciting, complete VAC 2025 program is now online! https://t.co/tPDT6dWGPk Don't wait to register! https://t.co/hJEp53G8WX
@vascern @hevas_nl @VASCAPA @CMTCOVM @ISSVA_org @PTENFoundation @LGDA_EU @LGDAlliance @AtavistikBio @PalvellaTX
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👋NF Clinicians & Healthcare Providers! The 2025 NF Virtual Case Conference kicks off Jan 16! Join the first session: Complex NF1 🕔5–6 PM ET. Led by top NF clinicians, this Zoom series dives into NF care & treatment. 🔗Register here: https://t.co/9ocOB4dTd5
#EndNF
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Describes use of #MEKi (MEK inhibitor) for #arrhythmia in absence of #cardiomyopathy in child with #Costellosyndrome #RASopathies More evidence for therapeutic benefit of MEKi 🫀🧪 https://t.co/gRn4EzAhop
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Hot off the press! Excited to share our work ‘Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy’ published in JACC BTS! Huge shoutout to all co-authors who stuck with us!! https://t.co/kIMHRF78gJ
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RASopathy syndromes affect brain development, behavior, cognition, & processing which can lead to cause anxiety, autism, ADHD, & seizures. This project will establish a platform to study nerve connections in a dish & how they respond to experimental therapeutic drugs!
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Congratulations to @SattarKhoshkhoo, on his selection to receive the #RASopathies Network MDBR Research Award for his project entitled "An iPSC-based Platform for Characterization of Neuronal Circuit Dysfunction in RASopathies"
orphandiseasecenter.squarespace.com
Sattar Khoshkhoo Brigham and Women's Hospital $58,222
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Thanks for the shout out! If you aren't sure how to access and what will be in the survey (in case you want to gather materials beforehand), watch our webinar to explain more #RASopathies @id_cure
https://t.co/uOAsa2fEaR
Please continue to help us spread the word about CURE ID so it can be an effective resource for patients, caregivers/partners and clinicians alike! @drraghutg @DrJudyStone @tmprowell @patientled @ahandvanish @Dysautonomia @RASopathiesnet @CureSarcoma @sarcomapatients /6
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Please continue to help us spread the word about CURE ID so it can be an effective resource for patients, caregivers/partners and clinicians alike! @drraghutg @DrJudyStone @tmprowell @patientled @ahandvanish @Dysautonomia @RASopathiesnet @CureSarcoma @sarcomapatients /6
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Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants
pubmed.ncbi.nlm.nih.gov
• This study provides new insights into the molecular and clinical characteristics of RASopathies by examining 149 patients from 146 families, with a focus on the genetic variants found in 24...
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Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature
jmg.bmj.com
Background and aims Neurofibromatosis–Noonan syndrome (NFNS) is an extremely rare genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 syndrome (NF1) and Noonan...
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@RASopathiesnet This landmark study, together with the overwhelming preclinical data out there, should be enough to encourage @Novartis to consider repurposing trametinib for RASopathies. Congrats to all the authors and patients that benefited from the treatment!!
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Congrats to all who contributed! 🫀🫀 Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy | JACC: Basic to Translational Science "Trametinib significantly reduced death, transplant, and cardiac surgery risk." https://t.co/lgViefBHIU
jacc.org
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