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

If you have a child diagnosed with #Costellosyndrome, there are amazing resources and support available through the Costello Syndrome Family Network costellosyndromeusa.org and CostelloKids.org

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies Abstract. Neurofibromatosis type 1 (NF1), Noonan syndrome, and related syndromes, grouped as RASopathies, result from dysregulation of the RAS-MAPK pathway and demonstrate varied multisystemic clinica...

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 🧪

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/