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?...
What are the RASopathies (updated)
YouTube video by RASopathies Network Videos
youtu.be
November 25, 2024 at 8:21 PM
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?...
🧪 Nice mechanistic work to id pathways affected by #RASopathies variants in PTPN11 / SHP2 phosphatase from the @antonbennett.bsky.social lab
doi.org/10.1073/pnas...
doi.org/10.1073/pnas...
SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR–IRX transcription factor signaling axis | PNAS
Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder
caused by mutations in PTPN11 (protein tyrosine phosphatase n...
doi.org
August 30, 2025 at 2:05 PM
🧪 Nice mechanistic work to id pathways affected by #RASopathies variants in PTPN11 / SHP2 phosphatase from the @antonbennett.bsky.social lab
doi.org/10.1073/pnas...
doi.org/10.1073/pnas...
Hello RAS! Just to add to the conversation... RAS isn't only a cancer gene. Some children are born with mutations in RAS or other components of the RAS pathway. These conditions are the "RASopathies" and they affect nearly 1 in 2000 births. Learn more at rasopathiesnet.org
Home - The RASopathies Network
rasopathiesnet.org
August 27, 2026 at 6:06 PM
Hello RAS! Just to add to the conversation... RAS isn't only a cancer gene. Some children are born with mutations in RAS or other components of the RAS pathway. These conditions are the "RASopathies" and they affect nearly 1 in 2000 births. Learn more at rasopathiesnet.org
Right on ! CNBC Cures.
We advocate for a group of #raredisease conditions related to #syngap. the #RASopathies. syngap is a #RAS gap linking it to several other neurodevelopmental syndromes 🧠🧪🧬
🙏 TY for highlighting rare disease stats and stories on your platform
We advocate for a group of #raredisease conditions related to #syngap. the #RASopathies. syngap is a #RAS gap linking it to several other neurodevelopmental syndromes 🧠🧪🧬
🙏 TY for highlighting rare disease stats and stories on your platform
30 million people are living with a rare disease in the United States, according to the National Organization of Rare Disorders.
That’s why we’re launching CNBC Cures, a new initiative to help raise awareness of rare diseases and improve patient outcomes.
Read more: cnb.cx/4pqqmK7
That’s why we’re launching CNBC Cures, a new initiative to help raise awareness of rare diseases and improve patient outcomes.
Read more: cnb.cx/4pqqmK7
January 9, 2026 at 1:18 AM
Right on ! CNBC Cures.
We advocate for a group of #raredisease conditions related to #syngap. the #RASopathies. syngap is a #RAS gap linking it to several other neurodevelopmental syndromes 🧠🧪🧬
🙏 TY for highlighting rare disease stats and stories on your platform
We advocate for a group of #raredisease conditions related to #syngap. the #RASopathies. syngap is a #RAS gap linking it to several other neurodevelopmental syndromes 🧠🧪🧬
🙏 TY for highlighting rare disease stats and stories on your platform
Mirdametinib is a #MEK inhibitor. 💊
In #NF1 and the #RASopathies, the RAS/RAF/MEK/MAPK pathway is inappropriately activated.
MEK inhibition helps to normalize pathway output for therapeutic benefit.
🧪
In #NF1 and the #RASopathies, the RAS/RAF/MEK/MAPK pathway is inappropriately activated.
MEK inhibition helps to normalize pathway output for therapeutic benefit.
🧪
The US Food and Drug Administration has approved mirdametinib for the treatment of neurofibromatosis type 1 (NF1) in adults and children. The drug, developed by SpringWorks Therapeutics, will be marketed under the name Gomekli. cen.acs.org/pharmaceutic... 🧪 #biosky #biopharma
The drug was once shelved by Pfizer. Now a new firm is taking it to market
The drug was once shelved by Pfizer. Now it has been repositioned and is on its way to market
cen.acs.org
February 15, 2025 at 3:35 PM
Mirdametinib is a #MEK inhibitor. 💊
In #NF1 and the #RASopathies, the RAS/RAF/MEK/MAPK pathway is inappropriately activated.
MEK inhibition helps to normalize pathway output for therapeutic benefit.
🧪
In #NF1 and the #RASopathies, the RAS/RAF/MEK/MAPK pathway is inappropriately activated.
MEK inhibition helps to normalize pathway output for therapeutic benefit.
🧪
Yaaaas!! This is the paper. Turns out that lymphatic disorders are caused by mosaic and germline RAS/MAPK pathway mutations (also PI3K pathway) and yes MEK inhibitors are showing remarkable results. The #RASopathies community is optimistic. 🧪
#KnowYourZDM: In 2019, a 10-year-old patient w/ a life-threatening lymphatic disorder was losing hope. Zebrafish to the rescue! Scientists created zebrafish with the same gene mutation and found a melanoma drug that fixed the fish. Then, doctors used the same drug on the patient to save his life! 🧪
November 21, 2025 at 1:40 PM
Yaaaas!! This is the paper. Turns out that lymphatic disorders are caused by mosaic and germline RAS/MAPK pathway mutations (also PI3K pathway) and yes MEK inhibitors are showing remarkable results. The #RASopathies community is optimistic. 🧪
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
#raredisease #rasopathies
A high-fidelity protocol for #hiPSC-derived Fibrosa vs Spongiosa #ValvularIntersistialCell
Endocardial state +FGF2/BMP4/TGFB2➡️
Fibrosa subset: PRRX2 TIMP3 ITGA2 (most discriminative marker)
Endocardial state +FGF2➡️
Spongiosa subset: LUM APOE
bioRxiv 2025
www.biorxiv.org/content/10.1...
Endocardial state +FGF2/BMP4/TGFB2➡️
Fibrosa subset: PRRX2 TIMP3 ITGA2 (most discriminative marker)
Endocardial state +FGF2➡️
Spongiosa subset: LUM APOE
bioRxiv 2025
www.biorxiv.org/content/10.1...
October 16, 2025 at 11:35 PM
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
#raredisease #rasopathies
🔥 BlueSky trending hashtags (30m):
#booksky #art #birds #pedsky #gamedev #photography #noonansyndrome #neurosky #mapk #ras #rasopathies #raredisease #indiedev #furry #medsky
#booksky #art #birds #pedsky #gamedev #photography #noonansyndrome #neurosky #mapk #ras #rasopathies #raredisease #indiedev #furry #medsky
November 29, 2025 at 4:00 PM
🔥 BlueSky trending hashtags (30m):
#booksky #art #birds #pedsky #gamedev #photography #noonansyndrome #neurosky #mapk #ras #rasopathies #raredisease #indiedev #furry #medsky
#booksky #art #birds #pedsky #gamedev #photography #noonansyndrome #neurosky #mapk #ras #rasopathies #raredisease #indiedev #furry #medsky
🌟 BlueSky trending hashtags (1h):
#booksky #art #gamedev #pedsky #birds #indiedev #photography #raredisease #noonansyndrome #neurosky #mapk #ras #rasopathies #furry #medsky
#booksky #art #gamedev #pedsky #birds #indiedev #photography #raredisease #noonansyndrome #neurosky #mapk #ras #rasopathies #furry #medsky
November 29, 2025 at 4:00 PM
🌟 BlueSky trending hashtags (1h):
#booksky #art #gamedev #pedsky #birds #indiedev #photography #raredisease #noonansyndrome #neurosky #mapk #ras #rasopathies #furry #medsky
#booksky #art #gamedev #pedsky #birds #indiedev #photography #raredisease #noonansyndrome #neurosky #mapk #ras #rasopathies #furry #medsky
🚀 BlueSky trending hashtags (15m):
#booksky #art #pedsky #gamedev #noonansyndrome #neurosky #mapk #ras #rasopathies #birds #raredisease #indiedev #photography #furry #furryart
#booksky #art #pedsky #gamedev #noonansyndrome #neurosky #mapk #ras #rasopathies #birds #raredisease #indiedev #photography #furry #furryart
November 29, 2025 at 4:00 PM
🚀 BlueSky trending hashtags (15m):
#booksky #art #pedsky #gamedev #noonansyndrome #neurosky #mapk #ras #rasopathies #birds #raredisease #indiedev #photography #furry #furryart
#booksky #art #pedsky #gamedev #noonansyndrome #neurosky #mapk #ras #rasopathies #birds #raredisease #indiedev #photography #furry #furryart
Interesting! 🧪Given prevalence of receptors that signal via RAS/MAPK & PI3K pathways in lymphatic development and function... its not surprising that RASopathies, genetic syndromes caused by inappropriate activation of RAS/MAPK signaling, can present with lymphatic anomalies.
For decades, we underestimated the importance of our lymphatic vessels to suppress cancer and its spread. Here's a new, open-access, outstanding review
rupress.org/jem/article/...
rupress.org/jem/article/...
February 23, 2025 at 7:42 PM
Interesting! 🧪Given prevalence of receptors that signal via RAS/MAPK & PI3K pathways in lymphatic development and function... its not surprising that RASopathies, genetic syndromes caused by inappropriate activation of RAS/MAPK signaling, can present with lymphatic anomalies.
Abby Kindberg is a postdoc in the Bush lab @jeffbush.bsky.social, joint with the Klein lab, who is working to generate new models of RASopathies, a family of craniofacial syndromes that results from deregulated Ras signaling. #ucsfNPAW #UCSFpostdocs
September 22, 2026 at 7:02 PM
Abby Kindberg is a postdoc in the Bush lab @jeffbush.bsky.social, joint with the Klein lab, who is working to generate new models of RASopathies, a family of craniofacial syndromes that results from deregulated Ras signaling. #ucsfNPAW #UCSFpostdocs
More on RASopathies and hearts 🫀
16% of pediatric hypertrophic cardiomyopathy cases were due to RASopathy in this cohort. #cardiosky #pedsky 🧪
rdcu.be/eL36v
16% of pediatric hypertrophic cardiomyopathy cases were due to RASopathy in this cohort. #cardiosky #pedsky 🧪
rdcu.be/eL36v
October 21, 2025 at 9:01 PM
More on RASopathies and hearts 🫀
16% of pediatric hypertrophic cardiomyopathy cases were due to RASopathy in this cohort. #cardiosky #pedsky 🧪
rdcu.be/eL36v
16% of pediatric hypertrophic cardiomyopathy cases were due to RASopathy in this cohort. #cardiosky #pedsky 🧪
rdcu.be/eL36v
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/
#Neuroscience #RareDisease #MedSky #NeuroSky
OA: pubmed.ncbi.nlm.nih.gov/41905474/
April 5, 2026 at 1:40 PM
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/
#Neuroscience #RareDisease #MedSky #NeuroSky
OA: pubmed.ncbi.nlm.nih.gov/41905474/
If you study anything related to #RAS signaling or treat people with RAS-associated genetic conditions (Noonan syndrome spectrum disorders), we invite you to attend the 9th International #RASopathies Symposium JULY 25-27, 2025
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
Symposia - The RASopathies Network
rasopathiesnet.org
April 29, 2025 at 3:48 PM
If you study anything related to #RAS signaling or treat people with RAS-associated genetic conditions (Noonan syndrome spectrum disorders), we invite you to attend the 9th International #RASopathies Symposium JULY 25-27, 2025
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
Loss of GPC6 generates a molecular hybrid of 2 developmental diseases: WNT5A deficiency characteristic of Robinow syndrome and pathological ERK activation characteristic of the RASopathies. Omodysplasia caused by loss of GPC6 overlaps both disease classes. #omodysplasia #RASopathy #Robinow
September 22, 2026 at 2:42 PM
Loss of GPC6 generates a molecular hybrid of 2 developmental diseases: WNT5A deficiency characteristic of Robinow syndrome and pathological ERK activation characteristic of the RASopathies. Omodysplasia caused by loss of GPC6 overlaps both disease classes. #omodysplasia #RASopathy #Robinow
I am honored to have received an Early Stage Investigator award and the opportunity to present my work on mitochondrial biology in Costello Syndrome at the 9th International RASopathies Symposium. I am grateful for the chance to discuss science and life’s challenges with everyone at this meeting.
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 🙏
🧪
PRIORITY1️⃣Repositioning therapeutics developed for RAS-ERK signaling in oncology for the mosaic & syndromic RASopathy conditions 🙏
🧪
August 22, 2025 at 7:11 PM
I am honored to have received an Early Stage Investigator award and the opportunity to present my work on mitochondrial biology in Costello Syndrome at the 9th International RASopathies Symposium. I am grateful for the chance to discuss science and life’s challenges with everyone at this meeting.
🧪🧬🩺🫀💊 Our conference proceedings are out now! Catch up on the latest work on how aberrant #RAS signaling affects human development.
📌The 9th International RASopathies Symposium - Castel - American Journal of Medical Genetics Part A - Wiley Online Library onlinelibrary.wiley.com/doi/10.1002/...
📌The 9th International RASopathies Symposium - Castel - American Journal of Medical Genetics Part A - Wiley Online Library onlinelibrary.wiley.com/doi/10.1002/...
The 9th International RASopathies Symposium
The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the...
onlinelibrary.wiley.com
March 21, 2026 at 1:01 PM
🧪🧬🩺🫀💊 Our conference proceedings are out now! Catch up on the latest work on how aberrant #RAS signaling affects human development.
📌The 9th International RASopathies Symposium - Castel - American Journal of Medical Genetics Part A - Wiley Online Library onlinelibrary.wiley.com/doi/10.1002/...
📌The 9th International RASopathies Symposium - Castel - American Journal of Medical Genetics Part A - Wiley Online Library onlinelibrary.wiley.com/doi/10.1002/...
Our ears are burning…
RAS syndromes are called RASopathies 🙃
from the cancer causing RAS gene family
🔍
RAS syndromes are called RASopathies 🙃
from the cancer causing RAS gene family
🔍
May 27, 2025 at 11:41 PM
Our ears are burning…
RAS syndromes are called RASopathies 🙃
from the cancer causing RAS gene family
🔍
RAS syndromes are called RASopathies 🙃
from the cancer causing RAS gene family
🔍
Using these I will ask how signalling and the cell cycle are coordinated during the earliest stages of craniofacial patterning and how this is impacted in the context of RASopathies.
July 24, 2026 at 7:04 AM
Using these I will ask how signalling and the cell cycle are coordinated during the earliest stages of craniofacial patterning and how this is impacted in the context of RASopathies.
🚀 BlueSky trending hashtags (15m):
#booksky #art #birds #gamedev #furry #photography #raredisease #furryart #mapk #neurosky #ras #rasopathies #noonansyndrome #pixelart #pedsky
#booksky #art #birds #gamedev #furry #photography #raredisease #furryart #mapk #neurosky #ras #rasopathies #noonansyndrome #pixelart #pedsky
November 29, 2025 at 3:45 PM
🚀 BlueSky trending hashtags (15m):
#booksky #art #birds #gamedev #furry #photography #raredisease #furryart #mapk #neurosky #ras #rasopathies #noonansyndrome #pixelart #pedsky
#booksky #art #birds #gamedev #furry #photography #raredisease #furryart #mapk #neurosky #ras #rasopathies #noonansyndrome #pixelart #pedsky
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 🙏
🧪
PRIORITY1️⃣Repositioning therapeutics developed for RAS-ERK signaling in oncology for the mosaic & syndromic RASopathy conditions 🙏
🧪
August 19, 2025 at 7:17 PM
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 🙏
🧪
PRIORITY1️⃣Repositioning therapeutics developed for RAS-ERK signaling in oncology for the mosaic & syndromic RASopathy conditions 🙏
🧪
In honor of #RareDiseaseDay and the mom of an amazing kiddo with one, I want to highlight the amazing organization working to improve the lives of people and families with RASopathies (like ours). (Full disclosure, I am lucky enough to be a Board member of this organization too).
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?...
What are the RASopathies (updated)
YouTube video by RASopathies Network Videos
youtu.be
February 28, 2025 at 6:27 PM
In honor of #RareDiseaseDay and the mom of an amazing kiddo with one, I want to highlight the amazing organization working to improve the lives of people and families with RASopathies (like ours). (Full disclosure, I am lucky enough to be a Board member of this organization too).
I'm delighted to see this beautiful study out. WNT5A hyperactivation drives the pathological ERK1/2 signalling. #RASopathies and implicaitons for cancer, what's not too like?!
Congratulations to Ian, Yeonjoo and all their collaborators! 👏 👏 👏 👏 👏
P.S. Take the rest of the day off!
Congratulations to Ian, Yeonjoo and all their collaborators! 👏 👏 👏 👏 👏
P.S. Take the rest of the day off!
Proud to share the labs first preprint! Led by Yeon, whose hard work, dedication and drive have been instrumental in bringing the project to this point. Thank you to everyone involved, especially long-term collaborators Yvonne and Yuguang. #Wnt #WntUK #RASopathy #ERK
www.biorxiv.org/content/10.6...
www.biorxiv.org/content/10.6...
GPC6 Lipid Shielding Sustains WNT5A Gradients to Prevent a RASopathy-like Developmental State
Morphogen gradients require ligands to disperse across tissues from their sites of production, yet receptor engagement can consume ligand before it reaches distant cells. This poses a particular chall...
www.biorxiv.org
September 22, 2026 at 4:48 PM
I'm delighted to see this beautiful study out. WNT5A hyperactivation drives the pathological ERK1/2 signalling. #RASopathies and implicaitons for cancer, what's not too like?!
Congratulations to Ian, Yeonjoo and all their collaborators! 👏 👏 👏 👏 👏
P.S. Take the rest of the day off!
Congratulations to Ian, Yeonjoo and all their collaborators! 👏 👏 👏 👏 👏
P.S. Take the rest of the day off!
Out Now! This seminal text, edited by Dr. Katherine A. Rauen, is the most extensive & current description of the state of the field and breadth of knowledge of congenital RASopathies syndromes / conditions. 🦴🫀🧠🧬🩸🩺🧪
#Medsky #scisky #RAS #MAPK #raredisease #RASopathies
doi.org/10.1007/978-...
#Medsky #scisky #RAS #MAPK #raredisease #RASopathies
doi.org/10.1007/978-...
The RASopathies
This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes.
doi.org
December 5, 2024 at 2:51 PM
Out Now! This seminal text, edited by Dr. Katherine A. Rauen, is the most extensive & current description of the state of the field and breadth of knowledge of congenital RASopathies syndromes / conditions. 🦴🫀🧠🧬🩸🩺🧪
#Medsky #scisky #RAS #MAPK #raredisease #RASopathies
doi.org/10.1007/978-...
#Medsky #scisky #RAS #MAPK #raredisease #RASopathies
doi.org/10.1007/978-...