It's not just about "brain power." 🏃‍♂️ Reduced cortical myelin in youth with RASopathies (like #Noonansyndrome) is significantly linked to lower muscle strength and mobility. This is the first study to connect these biological markers to daily physical functioning. 🧬 #RareDisease #HealthResearch

Vosoritide is also in trials for other short stature conditions like #Noonansyndrome and #Turnersyndrome
Favorable safety profile ✌️
#raredisease

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants

🧠🧪Retrospective characterization of #Noonansyndrome cohort (male predominant) (N=24). "Consistent associations between NS and low-grade brain tumors, including multifocal involvement and co-occurrence of germline PTPN11 and somatic FGFR1 abnormalities"
#pedsky #medsky #oncosky
rdcu.be/e7gPj

As an organization that advocates for awareness & research on #rarediseases, we celebrate this special day - Rare Disease Day - to highlight how common it is to have a rare disease 👉🏻 1 in 10 👤
You probably know someone OR are someone living with 1 of ~10k of them
For me it’s #Noonansyndrome

Turner Syndrome, Noonan Syndrome, SHOX deficiency. A clinical trial using vosoritide. MAGIC Clinic in Calgary, Alberta, Canada now has site activation for the Biomarin BMN 111-211 study. viperclinicaltrials.com

#turnersyndrome #noonansyndrome #ShortStature

A clinical trial for new drug for short stature in Noonan syndrome, Turner syndrome and SHOX deletion will be starting in Calgary, Alberta

#noonansyndrome #TurnerSyndrome #canada #alberta

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome - European Journal of Human Genetics European Journal of Human Genetics - Domain-specific phenotypic profiles in RAF1-related Noonan syndrome

📢 How do different RAF1 variants shape #NoonanSyndrome ? Are Heart issues or neurodevelopmental disorders more common? 🧬 #Genetics #Cardiology #RareDiseases

www.nature.com/articles/s41...

February is Noonan Syndrome Awareness Month. Noonan syndrome is named for Dr. Jacqueline Noonan, a cardiologist who first recognized and published a paper with nine individuals who had cardiac anomalies, short stature, chest deformities, and pulmonary valve stenosis. More info from Noonan Syndrome Foundation at www.teamnoonan.org

February is #Noonansyndrome awareness month AND the month when we recognize #RareDisease Day (Feb 28). We advocate for research and therapeutic progress 💊 for conditions caused by #RAS#MAPK signaling dysfunction. BTW, its not so rare. NS is ~1:2000 people!
🧪🩺🧬 #pedsky #medsky #cardiosky

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.
🧪💊🧬🩺

Multidisciplinary Treatment of Patients With Noonan Syndrome This consensus statement develops recommendations for diagnosis, treatment, and follow-up from childhood through adulthood for patients with Noonan Syndrome.

Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus Statement
OCT 2025
🧪🩺🧬#medsky #pedsky #noonansyndrome
jamanetwork.com/journals/jam...

#noonanSyndrome

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

🧪🧬
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...

Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome–Associated Obstructive Hypertrophic Cardiomyopathy:

🧪 Wondering whether mavacamten would provide therapeutic benefit for #noonansyndrome #HCM? 👇

🫀Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome–Associated Obstructive Hypertrophic Cardiomyopathy | JACC: Case Reports

#medsky #cardiosky
www.jacc.org/doi/10.1016/...

🌟 BlueSky trending hashtags (1h):

#booksky #art #gamedev #pedsky #birds #indiedev #photography #raredisease #noonansyndrome #neurosky #mapk #ras #rasopathies #furry #medsky

🔥 BlueSky trending hashtags (30m):

#booksky #art #birds #pedsky #gamedev #photography #noonansyndrome #neurosky #mapk #ras #rasopathies #raredisease #indiedev #furry #medsky

🚀 BlueSky trending hashtags (15m):

#booksky #art #pedsky #gamedev #noonansyndrome #neurosky #mapk #ras #rasopathies #birds #raredisease #indiedev #photography #furry #furryart

🚀 BlueSky trending hashtags (15m):

#booksky #art #birds #gamedev #furry #photography #raredisease #furryart #mapk #neurosky #ras #rasopathies #noonansyndrome #pixelart #pedsky

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/

🧪🦴🩺 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

Genotype–phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study | Molecular Autism

🧪 #MedSky #Neurosky
Recent research on #noonansyndrome
Yes, there is increased risk for autism spectrum traits if you have syndromes associated with RAS pathway mutations.
rdcu.be/eMNHY

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While var....

🧪 #medsky Interesting report of clinical 'misdiagnosis', indeed several syndromes look like #noonansyndrome
🧬Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome - Kim - AJMGPart A onlinelibrary.wiley.com/doi/10.1002/...

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

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/...

Noonan Syndrome and Speech Apraxia Noonan Syndrome and Speech Apraxia

Research shows #NoonanSyndrome can affect speech + communication, with links to #ApraxiaOfSpeech & #Dysarthria. Early #SpeechTherapy assessment is key to boosting clarity, confidence & connection. #GeneticDisorders #SLT #CommunicationMatters speechapraxia.co.uk/about-sauk/f...

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

This is cool! The link from Plexin/Semaphorin to R-RAS signaling raises interesting questions about mechanism of action underlying clinical manifestations of human germline gain of function variants in #Noonansyndrome. (🔼bleeding, 🔼lymphatic dysplasia, CNS 🔼oligod 🔼myelination, muscle hypotonia)

woman standing next to a company logo

I was invited to sit on an advisory board for a clinical trial. Thank you @biomarinpharma.bsky.social for embracing the patient voice for treatment of skeletal conditions. Delighted to meet the dedicated BioMarin team & fellow advocates in the #noonansyndrome & #turnersyndrome communities. #pedsky

Cardiovascular aspects of Noonan syndrome and related disorders - PubMed Noonan syndrome and other RASopathies constitute an important group of disorders to be considered in the differential diagnosis in individuals with congenital heart defects and hypertrophic cardiomyop...

#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/

Wondering what genes are linked to #RASopathies and their relative proportion in #Noonansyndrome and #CFCsyndrome?
#raredisease #genetics #pedsky 🧪🧬🩺
pubmed.ncbi.nlm.nih.gov/40207038/

Brain MRI Findings of MVNT-like Lesions in Children with Noonan Syndrome: A Case Series (P2-6.019) | Neurology Objective: To report the identification of multinodular and vacuolating neuronal tumor (MVNT)-like lesions in children with Noonan syndrome. Background: Noonan syndrome is a single gene disorder caus...

MVNT like lesions in children with #Noonansyndrome
#pedsky #oncsky #oncosky 🧠🧪
www.neurology.org/doi/10.1212/...