Latest posts tagged with #RASopathy on Bluesky
So excited to see this. Investment in small molecule drugs targeting #Noonansyndrome #RASopathy #RAS #MAPK signaling.
By far the most common gene mutated in #Noonan syndrome is PTPN11 encoding SHP2 protein tyrosine phosphatase. Congrats to Think Biosci.
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BLOG: LZTR variants are linked to autosomal dominant & recessive forms of #Noonansyndrome #RASopathy
LZTR’s role in regulating RAS signaling via degradation points to disease mechanism & therapeutic possibilities.
#Medsky #oncosky #pedsky #RAS
frederick.cancer.gov/news/exploit...
Wow this could potentially be useful for the #RASopathy #NF1 community who experience not only hypertrophic neuropathy but Schwann cell dysfunction and cancer. Markers for resident and infiltrating cells. 🧪
🧪Nice structural work from @Castel @Simanshu groups to understand #RAS GTPase family degradation & consequences of human variants in LZTR-related #Noonansyndrome #RASopathy #raredisease
💠Structural basis for LZTR1 recognition of RAS GTPases for degradation | Science www.science.org/doi/10.1126/...
🧪 #medsky #pedsky
Complex Lymphatic Anomalies awareness day:
Did you know that ~1 in 5 individuals with a #RASopathy has lymphatic issues?
Can show in prenatal/neonatal period but also in adolescence/adulthood.
Especially CCLA Central Conducting Lymphatic Anomaly www.linkedin.com/posts/nobias...
ClinGen #RASopathy VCEP updates ACMG/AMP variant guidelines, enhancing classification for dominant and recessive RASopathies with broader applications to rare disease genomics bit.ly/3H0AF7s #GIMO #VariantInterpretation #MAPK #Noonan #ACMG #AMP #GeneticDiagnosis #ClinGen
#pedsky #medsky
Meet Helaina, 💃 ballroom dancer!
issuu.com/raritylife/d...
#Costello syndrome is a #RASopathy with mutations in the #HRAS gene. Probably only 1000-1500 people worldwide w/ this rare condition. For support & info go to costellokids.com
Rocking our zebra stripes for #RareDisease
highlighting the unmet needs of #RASopathy patients at the #RAS initiative conference
💙February is #NoonanSyndromeAwareness month❤️
🧪NS is a #RASopathy
🧬NS is a genetic condition caused by mutations in one of ~20 different genes (#PTPN11 most common).
👶NS frequency is ~1 in 2000 births.
📊NS is a spectrum from mild to severely affected, some will die from complications like #HCM
Today, we are highlighting #CostelloSyndrome a rare #RASopathy caused by pathogenic #HRAS mutations, occurring ~1:380,000 births. Individuals with CS have a 13% ⬆️ risk of malignancy -> rhabdomyosarcoma, bladder carcinoma, and neuroblastoma. doi.org/10.1158/1078...
#oncosky #medsky #pedsky 🧪
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies
#NIH funding supports collaboration with our advocacy organization to accelerate therapies for our patient community. Natural history study and defining the risk and types of cancer in the #RASopathy syndromes
#oncosky #pedsky #medsky
Together we are accelerating research and advancing therapies.
Describes use of #MEKi (MEK inhibitor) for arrhythmia in absence of cardiomyopathy in child with #Costellosyndrome #RASopathy More evidence for therapeutic benefit of MEKi
#pedsky #cardiosky 🫀🧪
pubmed.ncbi.nlm.nih.gov/39757526/
#pedsky
"More than 50% of infants with Noonan syndrome-like #RASopathy have serious feeding/eating problems. Most of them temporarily need tube feeding." CBT benefits equally well those with ARFID whether they have #Noonan syndrome or not.
pubmed.ncbi.nlm.nih.gov/39710790/
Hello! Newly diagnosed with a #RASopathy syndrome? (#Noonan, #Costello, #Cardiofaciocutaneous #CFCsyndrome, #Neurofibromatosis 1, #Legius, and others) ⬇️ Here's a helpful whiteboard video to explain more youtu.be/-ZbyIWLVTds?...
