Nice embedded video describing the purpose and benefit of next-gen whole genome sequencing for diagnosis. Featuring clinician, Dr. Carlos Prada, from @luriechildrens.bsky.social who runs a #RASopathy specialty clinic. Shout out to their wonderful genetic counselors!

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.
🧪💊🧬🩺

Exploiting cellular degradation machinery as a potential treatment strategy for RAS-driven cancers | Frederick National Laboratory Image

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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. 🧪

Structural basis for LZTR1 recognition of RAS GTPases for degradation The RAS family of small guanosine triphosphatases (GTPases) are tightly regulated signaling molecules that are further modulated by ubiquitination and proteolysis. Leucine Zipper-like Transcription Re...

🧪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/...

#claawarenessday #complexlymphaticanomalies | Nobias Therapeutics As a company dedicated to rare pediatric diseases (and with a pre-clinical CLA program), Nobias is proud to support CLA Awareness Day. CLA Awareness Day shines a light on Complex Lymphatic Anomalies ...

🧪 #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

Rarity Life Issue 12 Rarity Life is an online publication that offers those affected by rare disease, disability and cancer the opportunity to create content that is truly inclusive, to unify our collective experience and

#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

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 🧪

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/

Do children with a Noonan syndrome-like RASopathy and avoidant/restrictive food intake disorder benefit from behavioral therapy? - PubMed • Ultimately, these feeding/eating problems may develop into an avoidant/restrictive food intake disorder. • Behavioral therapy (SLIK program) can effectively manage complex feeding/eating problems su...

#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?...