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RASopathies Network @rasnet.bsky.social · 02/10/2026

Prevalence in their cohort broken down by gene. And sadly, death in 3 newborn patients. These papers focus on Noonan syndrome, but lymphatic anomalies are also observed in CFC syndrome and other RASopathies.

Table of data from medical publication showing the distribution of genes involved with noonan syndrome in the cohort of 118 patients and in literature.

Data table showing the characteristics of 3 patients with noonan syndrome that died shortly after birth from complications of lymphatic anomalies.

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RASopathies Network @rasnet.bsky.social · 02/10/2026

From the same clinical group in the Netherlands, a retrospective case series, related to Noonan syndrome. 1 in 5 patients is likely an underestimate. pmc.ncbi.nlm.nih.gov/articles/PMC...

Picture of a medical article titled "Lymphatic anomalies during lifetime in patients with noonan sydrome: retrospective cohort study."

Highlighted text: The lifetime prevalence of lymphatic anomalies in the total cohort was 37%. Prenatal lymphatic anomalies were observed in 18 of 92 (20%) patients from which prenatal data were present, and postnatl lymphatic anomalies in 35 of 115 (30%) of patients.

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RASopathies Network @rasnet.bsky.social · 02/10/2026

Yes, Thanks for asking. There are numerous clinical case studies. Here are a few related to Noonan syndrome. www.mdpi.com/1422-0067/26...

Picture of scientific publication, titled "Targeted therapy for complex lymphatic anomalies in patients with noonan syndrome and related disorders"

text from the paper with a highlighted section. "Lymphatic anomalies are a major feature in Noonan syndrome (NS), with a lifetime prevalence of approximately 37%"

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RASopathies Network @rasnet.bsky.social · 26/08/2026

from the Corning Museum, a feathery cube? -zoom in- #glass #imaging #microscopy

photo of a cube made from borosilicate coverslips at the Corning Museum in Corning, NY

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RASopathies Network @rasnet.bsky.social · 20/08/2026

look at those dorsal vessels 😲 (fly hearts!) rigosertib normalizes heart wall thickness , imaged with collagen IV, of heart-specific expression of human RASopathy variants

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RASopathies Network @rasnet.bsky.social · 20/08/2026

modeling and testing treatments for Raf1 associated hypertrophic cardiomyopathy using Drosophila 🪰

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RASopathies Network @rasnet.bsky.social · 30/06/2026

🗣️ Upcoming Webinar JULY 22, 2026 with one of our Scientific Advisors: Dr. David Stevenson of Stanford. Hosted by BRIDGE Lab - Stanford University 💪 🦴 Musculoskeletal system in #NF1 with insights for #RASopathies

Webinar Announcement. Dr. David Stevenson, member of the Stanford Bone Health Care Team, and RASopathies Network scientific advisory board member, will present a talk about various musculoskeletal abnormalities and difficulties encountered in neurofibromatosis #NF1.
July 22, 2026 at 1-2pm Pacific standard time. There is a QR code to register. Questions may be directed to bridgelab@stanford.edu

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RASopathies Network @rasnet.bsky.social · 16/06/2026

🧪🧠🧬Check out the latest news, events, and some #RASopathies research highlights in our quarterly RASNet-letter #medsky #oncosky #pedsky #raredisease #ras mailchi.mp/3d5a3838bc32...

RASopathies are genetic syndromes caused by variants in components of the RAS/RAF/MEK/ERK signaling pathway

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RASopathies Network @rasnet.bsky.social · 15/05/2026

@ikebarinholtz.bsky.social IS MOVING ON TO THE FINALS! 🤩 So grateful that you're raising awareness for #Noonansyndrome -a genetic condition affecting nearly 1:2000 individuals #RASopathies Network aims to advance research on these syndromes. Connecting, collaborating, accelerating treatments.

Picture of Celebrity Jeopardy contestant Ike Barinholtz, in front of the Jeopardy category board, who is raising money for Noonan Syndrome Foundation. IKE IS MOVING ON TO THE FINALS!!

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RASopathies Network @rasnet.bsky.social · 17/04/2026

🧪🧬🩺💊 Unpack the FDA’s new Plausible Mechanism Framework for individualized genetic therapies in NORD’s Rare Action Network virtual webinar. @nordrare.bsky.social #medsky #pedsky rarediseases.zoom.us/webinar/regi...

Webinar Reminder: Understanding the FDA's Plausible Mechanism Framework

Tuesday, April 21, 1-2 p.m. ET

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RASopathies Network @rasnet.bsky.social · 11/04/2026

Amazing opportunity from everylifeorg.bsky.social for the #raredisease community 💙 The #RAREis Scholarship Fund is offering 58 scholarships of $5000 for ppl with RD to help pursue higher education, + access to mentorship & advocacy opportunities 🗓 Apply by April 28 📍 Learn more: RareScholarship.org

Everylife Foundation for Rare Diseases and Amgen present the #RAREis scholarship fund. Fifty-eight $5000 scholarships are available for individuals with rare diseases to pursue education in Fall 2026.
Apply by April 28, 2026 at RareScholarship.org

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RASopathies Network @rasnet.bsky.social · 05/04/2026

New research explores how myelin—the brain's insulation—is affected in kids w/ RASopathies. Using a "genetics-first" approach, Plank et al found widespread ⏬ in cortical myelin, mapping a new path for treatment. 🧠📉🧪 #Neuroscience #RareDisease #MedSky #NeuroSky OA: pubmed.ncbi.nlm.nih.gov/41905474/

Illustration of cortical sampling across three depths using T1w/T2w ratio images. Figure 1 from linked article:T1w/T2w ratio as an in vivo proxy for reduced intracortical myelin content in youth with RASopathies: a cross-sectional study

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RASopathies Network @rasnet.bsky.social · 21/02/2026

💊CURE-ID rare disease drug repurposing survey for RASopathies🧪 Developed by FDA and NIH, CURE ID is a free platform where patients, caregivers, and clinicians can report their experiences using existing drugs (LIKE MEK INHIBITORS) in new ways to treat rare diseases.

FDA and NIH Center for Translational Science developed a platform to capture user experience with repurposed medicines. Share your treatment experience, explore what others have tried

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RASopathies Network @rasnet.bsky.social · 03/02/2026

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

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

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RASopathies Network @rasnet.bsky.social · 30/01/2026

🧪🩺🧬🦠 No statistically significant differences were found in the severity or duration of COVID-19 between NS patients and controls. No statistically significant differences in side effects from the BNT162 vaccine were observed between groups. #Medsky #IDsky #noonan pubmed.ncbi.nlm.nih.gov/41602885/

Incidence and severity of SARS-CoV-2 infection and vaccine BNT162 side effects in children and adolescents with Noonan Syndrome: a national multicentric study

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RASopathies Network @rasnet.bsky.social · 20/01/2026

www.economist.com/science-and-...

Treatment of a teenager with an ultrarare condition is a medical milestone

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RASopathies Network @rasnet.bsky.social · 29/11/2025

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/

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.

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RASopathies Network @rasnet.bsky.social · 21/10/2025

More on RASopathies and hearts 🫀 16% of pediatric hypertrophic cardiomyopathy cases were due to RASopathy in this cohort. #cardiosky #pedsky 🧪 rdcu.be/eL36v

Graphical Abstract: Clinical Characteristics and Etiology-Specific Outcomes in Pediatric Hypertrophic Cardiomyopathy

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RASopathies Network @rasnet.bsky.social · 17/10/2025

🦴💪 Join us - the Skeletal Conditions Advocacy Coalition - and Life Sciences Pennsylvania - for an event at the PA capitol with the #raredisease caucus and #disability advocates. OCT 28, 2025 tinyurl.com/y5vjxmkv

Invitation to the Empowered Together Pennsylvania Legislative Briefing with the Skeletal Conditions Advocacy Coalition on October 28, 2025 to advocate for rare disease awareness and disability and medicaid services.

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RASopathies Network @rasnet.bsky.social · 19/08/2025

Heartfelt thank-you to all of the sponsors who contributed to making this a highly successful and informative meeting.

Graphic with logos of sponsors who supported the 9th International Rasopathies Symposium in 2025

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RASopathies Network @rasnet.bsky.social · 19/08/2025

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 🙏 🧪

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.

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RASopathies Network @rasnet.bsky.social · 01/07/2025

RAS isn't just a cancer gene! Learn more about conditions linked to altered #RAS #MEK #MAPK signaling? The "RASopathies" are among the largest group of systemic congenital disorders. See how variants in RAS pathway components affect human development & biology. 🧪 #cansky #oncosky #pedsky #devsky

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RASopathies Network @rasnet.bsky.social · 19/06/2025

⚡️After a long and, at times, tense process lasting nearly 11 months, we are excited to announce that we received partial funding from NIH National Center for Advancing Translational Sciences (NCATS) to support the RASopathies Symposium! We are thankful for all our generous sponsors 🙌

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RASopathies Network @rasnet.bsky.social · 10/06/2025

🧪 -First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case- Phenotype trajectory is an informative way to visualize the data for individuals and as a whole. doi.org/10.1016/j.aj...

Figure 6 Phenotype trajectory diagram for the Noonan syndrome individualI2 from the Undiagnosed Diseases Program Services Singapore

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RASopathies Network @rasnet.bsky.social · 28/05/2025

Our ears are burning… RAS syndromes are called RASopathies 🙃 from the cancer causing RAS gene family 🔍

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RASopathies Network @rasnet.bsky.social · 15/05/2025

Don't Miss Out! 🧪#pedsky#medsky#oncosky#cardiosky#neurosky#GI Early registration and Abstract Submission Deadline Today! for the 9th International RASopathies Symposium Orlando, FL July 25-27, 2025 MORE INFO: rasopathiesnet.org/symposia/

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RASopathies Network @rasnet.bsky.social · 06/05/2025

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

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RASopathies Network @rasnet.bsky.social · 05/05/2025

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

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RASopathies Network @rasnet.bsky.social · 29/04/2025

RASNet would like to thank our generous industry sponsors for supporting this scientific symposium. Sessions on #GIsky 🤢 #lymphatic #cardiosky 🫀 #neurosky 🧠 #genetics 🧬 #cancer 🩺 #therapeutics 💊

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RASopathies Network @rasnet.bsky.social · 12/04/2025

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

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RASopathies Network @rasnet.bsky.social · 19/03/2025

🗣️ Registration is now open for the 9th International #RASopathies Symposium in July. #RAS #MEK #research #medsky #pedsky #oncsky #academicsky #cardiosky #chronicillness #raredisease #geneticsyndromes 🧪🫀🦴💊🧠🦷👁️🩸🧬🩺🩻

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RASopathies Network @rasnet.bsky.social · 10/03/2025

Some science! Trametinib as a targeted treatment in cardiac and lymphatic presentations of #Noonansyndrome pubmed.ncbi.nlm.nih.gov/40041314/ 🧪#medsky #pedsky #RAS #raredisease A case study and a review of published cases. Look at that respiratory support curve at the bottom of the figure! 🫁

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RASopathies Network @rasnet.bsky.social · 28/02/2025

Rocking our zebra stripes for #RareDisease highlighting the unmet needs of #RASopathy patients at the #RAS initiative conference

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RASopathies Network @rasnet.bsky.social · 23/02/2025

Circulation Research. 2021;129:136–154. DOI: 10.1161/CIRCRESAHA.121.318142 CLA: Complex lymphatic anomalies Not clear yet if / how these malformations in RASopathies impact cancer predisposition or immune function

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RASopathies Network @rasnet.bsky.social · 08/02/2025

The most important part. Outcomes.

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RASopathies Network @rasnet.bsky.social · 08/02/2025

5️⃣ #NCI -designated cancer centers in PA. Would these go away? with loss of #NIH ecosystem? Is this enough to spur you to advocate for keeping NIH functioning? What other state should we look at?

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RASopathies Network @rasnet.bsky.social · 08/02/2025

We are coming to you tonight from Pennsylvania so here are the #NIH numbers for our state (2023) www.faseb.org/FASEB/media/...

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RASopathies Network @rasnet.bsky.social · 03/02/2025

💙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

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RASopathies Network @rasnet.bsky.social · 26/01/2025

#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.

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies

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RASopathies Network @rasnet.bsky.social · 11/01/2025

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/

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