Latest posts tagged with #RASopathies on Bluesky
💊CURE-ID is an FDA/ NIH developed treatment registry to capture rare disease drug repurposing.
#RASopathies patients, caregivers, and clinicians can report experiences using existing drugs (LIKE MEK INHIBITORS) to see what’s working or not.
cure.ncats.io/explore/rare...
🧬 Oncogenic KRAS mutations (pancreatic, colorectal, lung cancers) stabilize these complexes, sustaining growth signalling.
Explore RAS at the complex level → new therapeutic insights.
#RAS #KRAS #RASopathies #CancerBiology #ComplexPortal
@laurenctesta.bsky.social Saw your talk just now. You're so inspiring. And thanks for highlighting the complex emotions of being a patient-scientist.
I look forward to following your next chapter.
#raredisease #rddnih #rasopathies #hope #precisionmedicine
Right on ! CNBC Cures.
We advocate for a group of #raredisease conditions related to #syngap. the #RASopathies. syngap is a #RAS gap linking it to several other neurodevelopmental syndromes 🧠🧪🧬
🙏 TY for highlighting rare disease stats and stories on your platform
🌟 BlueSky trending hashtags (1h):
#booksky #art #gamedev #pedsky #birds #indiedev #photography #raredisease #noonansyndrome #neurosky #mapk #ras #rasopathies #furry #medsky
🔥 BlueSky trending hashtags (30m):
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🚀 BlueSky trending hashtags (15m):
#booksky #art #pedsky #gamedev #noonansyndrome #neurosky #mapk #ras #rasopathies #birds #raredisease #indiedev #photography #furry #furryart
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Noonan syndrome is a RASopathy characterised by short stature, heart disease and brain-related disorders. Brain-related disorders include intellectual developmental disorder (IDD), autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), among others. IDD, ASD and ADHD were estimated to affect 23%, 11% and 31% of individuals, respectively. This is higher than the prevalence in the general population. The prevalence of seizure disorders and emotional disorders was also high, although the evidence was more limited.
Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis
#rasopathies #raredisease #noonansyndrome #RAS #MAPK
🧪 🧠 #neurosky #pedsky #medsky
pubmed.ncbi.nlm.nih.gov/41310115/
More on #RASopathies and lymphatic anomalies. Several cases reported.
link.springer.com/article/10.1...
Yaaaas!! This is the <ARAF> paper. Turns out that lymphatic disorders are caused by mosaic and germline RAS/MAPK pathway mutations (also PI3K pathway) and yes MEK inhibitors are showing remarkable results. The #RASopathies community is optimistic. 🧪
🧪🦴🩺 Any docs out there know what causes long term bone pain, not shin splints, not growing pains, but searing pain in the shin bones and ankles. With normal bloodwork. In adults with #Noonansyndrome #rasopathies
#medsky
#cardiosky
ASDs are a possible congenital anomaly in #RASopathies
One prevalent diagnostic symptom of #Noonansyndrome is congenital pulmonary valve stenosis. Work from the Gelb lab advances an iPSC platform for studying valve development and function. #cardiosky 🫀 🧪
#raredisease #rasopathies
Always love a great open access review 👍
Targeting pathological ERK1/2 signaling in cancer and beyond: Trends in Molecular Medicine www.cell.com/trends/molec...
#RASopathies #RAS #MEK #Medsky #Oncosky #Pedsky
🧪
🧪 Nice mechanistic work to id pathways affected by #RASopathies variants in PTPN11 / SHP2 phosphatase from the @antonbennett.bsky.social lab
doi.org/10.1073/pnas...
a group of students and postdocs receiving award certificates for their highly significant poster abstract submissions on the opening night of the RASopathies conference in 2025
A graphic describing the Ninth International RASopathies Symposium post-symposium number of attendees, sponsors, advocacy partners, etc.
The 9th International #RASopathies Symposium brought together a really fantastic group of participants & attendees. Inspiring to see the new generation coming up.
PRIORITY1️⃣Repositioning therapeutics developed for RAS-ERK signaling in oncology for the mosaic & syndromic RASopathy conditions 🙏
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🧪 Downstream branches of receptor tyrosine kinase signaling act interdependently to shape the face-Hanne-2025-Dev Dyn anatomypubs.onlinelibrary.wiley.com/doi/10.1002/...
Inhibitors >> mild truncation of growth. Craniofacial development is robust.
What effect does mild activation have? #RASopathies
We're ready to go! Hoping for good weather for all the travelers.
Can't make it in person -- attend virtually.
🧪 #medsky #cardiosky #oncosky #academicsky #neurosky
#Rasopathies #ras #kras #mek #raredisease #research #treatments #noonansyndrome #cfcsyndrome #nf1 #costellosyndrome
Although #cancer risk is elevated in #Cardiofaciocutaneous syndrome it may be limited to early childhood. #CFC #RASopathies bit.ly/4jUn3Jb
Heads up 🗣️
9️⃣ more days of EARLYBIRD rates to register for #RASopathies SYMPOSIUM
Don't miss the opportunity to interact with experts and advocates who will discuss physiological systems and treatment advances related to genetic conditions: #CFC #Noonan #Costello #NF1, #NSML, #Mazzanti syndromes
If you study anything related to #RAS signaling or treat people with RAS-associated genetic conditions (Noonan syndrome spectrum disorders), we invite you to attend the 9th International #RASopathies Symposium JULY 25-27, 2025
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
#cardiosky #pedsky One of the primary diagnostic features of #Noonansyndrome and other #RASopathies is cardiovascular anomalies: pulmonic stenosis, hypertrophic cardiomyopathy, septal defects, and arrhythmias 🫀https://pubmed.ncbi.nlm.nih.gov/40207038/
#RASopathies are multisystem congenital conditions caused by *genetic* changes that affect development of the brain and other organs. Ppl with a RASopathy have a higher risk of autism spectrum disorder, ADHD, and anxiety. Appreciate this take from @rubinallergy.bsky.social 🙏
Wondering what genes are linked to #RASopathies and their relative proportion in #Noonansyndrome and #CFCsyndrome?
#raredisease #genetics #pedsky 🧪🧬🩺
pubmed.ncbi.nlm.nih.gov/40207038/
🗣️ Registration is now open for the 9th International #RASopathies Symposium in July.
#RAS #MEK #research
#medsky #pedsky #oncsky #academicsky #cardiosky
#chronicillness #raredisease #geneticsyndromes
🧪🫀🦴💊🧠🦷👁️🩸🧬🩺🩻
Heather Stone worked with us and other advocates to develop a #RASopathies survey on the CURE ID platform to collect patient experiences on use of repurposed medicines.
Thank you Heather!
🧪#medsky #oncsky #pedsky
This article has some tidbits about the #MEK inhibitor class that are the lowest hanging fruits for #RASopathies at the moment.
www.genengnews.com/topics/drug-...
