RASopathies Network
@rasnet.bsky.social
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease
by Stronach in Pittsburgh
by Stronach in Pittsburgh
Pinned
RASopathies Network
@rasnet.bsky.social
· Nov 25
What are the RASopathies (updated)
YouTube video by RASopathies Network Videos
youtu.be
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?...
🧪🩺
Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature - Madenidou - AJMG Part A onlinelibrary.wiley.com/doi/10.1002/...
#medsky
Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature - Madenidou - AJMG Part A onlinelibrary.wiley.com/doi/10.1002/...
#medsky
Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature
RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway. Histor...
onlinelibrary.wiley.com
January 12, 2026 at 10:46 PM
🧪🩺
Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature - Madenidou - AJMG Part A onlinelibrary.wiley.com/doi/10.1002/...
#medsky
Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature - Madenidou - AJMG Part A onlinelibrary.wiley.com/doi/10.1002/...
#medsky
structural biology
human genetics
precision medicine
🧪 #medsky#RAS
New insights in regulation of RAS isoforms revealed by protein structures: Trends in Biochemical Sciences www.cell.com/trends/bioch...
human genetics
precision medicine
🧪 #medsky#RAS
New insights in regulation of RAS isoforms revealed by protein structures: Trends in Biochemical Sciences www.cell.com/trends/bioch...
New insights in regulation of RAS isoforms revealed by protein structures
Leucine zipper-like post translational regulator 1 (LZTR1) functions as a RAS degrader,
but the molecular basis of LZTR1-RAS regulation has remained unclear. A recent report
by Dharmaiah et al. presen...
www.cell.com
January 10, 2026 at 1:51 AM
structural biology
human genetics
precision medicine
🧪 #medsky#RAS
New insights in regulation of RAS isoforms revealed by protein structures: Trends in Biochemical Sciences www.cell.com/trends/bioch...
human genetics
precision medicine
🧪 #medsky#RAS
New insights in regulation of RAS isoforms revealed by protein structures: Trends in Biochemical Sciences www.cell.com/trends/bioch...
Researchers have discovered a periodic scaffold in the epidermis adjacent to the nervous system of C. elegans. The find may indicate similar structures in other organisms.
Learn more in this week’s issue of #ScienceAdvances: https://scim.ag/4qaC6BF
Learn more in this week’s issue of #ScienceAdvances: https://scim.ag/4qaC6BF
January 10, 2026 at 1:33 AM
THREAD
The first full year of tracking research on @bsky.app
Hi, we are Altmetric, and we track how research is communicated across the web.
We now have one full calendar year of Bluesky research data and thought we'd have a looksie.
The first full year of tracking research on @bsky.app
Hi, we are Altmetric, and we track how research is communicated across the web.
We now have one full calendar year of Bluesky research data and thought we'd have a looksie.
January 9, 2026 at 1:30 AM
Reposted by RASopathies Network
Scientific research is flowing and flourishing on Bluesky. (Plants flag) I claim this land for #Science 🧪🩺🔬📡
THREAD
The first full year of tracking research on @bsky.app
Hi, we are Altmetric, and we track how research is communicated across the web.
We now have one full calendar year of Bluesky research data and thought we'd have a looksie.
The first full year of tracking research on @bsky.app
Hi, we are Altmetric, and we track how research is communicated across the web.
We now have one full calendar year of Bluesky research data and thought we'd have a looksie.
January 8, 2026 at 5:56 PM
Scientific research is flowing and flourishing on Bluesky. (Plants flag) I claim this land for #Science 🧪🩺🔬📡
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
Reposted by RASopathies Network
ABSTRACT SUBMISSION OPEN! #CACNA1C
Join us at the Connect CACNA1C Global Network Conference! 🧬22nd-23rd July 2026 in Cardiff, UK
Click here for registration/abstract submission:
🔗 timothysyndrome.org/conference/
#TimothySyndrome #channelopathies #genomics
Join us at the Connect CACNA1C Global Network Conference! 🧬22nd-23rd July 2026 in Cardiff, UK
Click here for registration/abstract submission:
🔗 timothysyndrome.org/conference/
#TimothySyndrome #channelopathies #genomics
January 8, 2026 at 6:50 PM
ABSTRACT SUBMISSION OPEN! #CACNA1C
Join us at the Connect CACNA1C Global Network Conference! 🧬22nd-23rd July 2026 in Cardiff, UK
Click here for registration/abstract submission:
🔗 timothysyndrome.org/conference/
#TimothySyndrome #channelopathies #genomics
Join us at the Connect CACNA1C Global Network Conference! 🧬22nd-23rd July 2026 in Cardiff, UK
Click here for registration/abstract submission:
🔗 timothysyndrome.org/conference/
#TimothySyndrome #channelopathies #genomics
Reposted by RASopathies Network
Rare doesn’t mean alone. #KidsFirstDRC is connected by compassion, strengthened by science.
Learn more: https://monkeylink.co/d2a835
#TheRareWeShare #CongenitalDisorderAwareness
Learn more: https://monkeylink.co/d2a835
#TheRareWeShare #CongenitalDisorderAwareness
January 1, 2026 at 2:30 PM
Rare doesn’t mean alone. #KidsFirstDRC is connected by compassion, strengthened by science.
Learn more: https://monkeylink.co/d2a835
#TheRareWeShare #CongenitalDisorderAwareness
Learn more: https://monkeylink.co/d2a835
#TheRareWeShare #CongenitalDisorderAwareness
Reposted by RASopathies Network
More news (not good) from NIH
The renewal request from National Institute of Neurological Diseases and Stroke Director Walter Koroshetz has been denied.
I guess the NIH_leadership™ needed another position to fill with their time-tested recruitment process.
The renewal request from National Institute of Neurological Diseases and Stroke Director Walter Koroshetz has been denied.
I guess the NIH_leadership™ needed another position to fill with their time-tested recruitment process.
December 27, 2025 at 4:17 PM
More news (not good) from NIH
The renewal request from National Institute of Neurological Diseases and Stroke Director Walter Koroshetz has been denied.
I guess the NIH_leadership™ needed another position to fill with their time-tested recruitment process.
The renewal request from National Institute of Neurological Diseases and Stroke Director Walter Koroshetz has been denied.
I guess the NIH_leadership™ needed another position to fill with their time-tested recruitment process.
Reposted by RASopathies Network
A beautiful Christmas Eve morning in #pittsburgh today with buildings downtown lit up red and green for the holidays. Sunrise was incredible as well from the West End Overlook, capping off what was a great start to the day.
December 24, 2025 at 2:26 PM
A beautiful Christmas Eve morning in #pittsburgh today with buildings downtown lit up red and green for the holidays. Sunrise was incredible as well from the West End Overlook, capping off what was a great start to the day.
Reposted by RASopathies Network
8-year-old Maxwell, with a disease so rare it didn’t even have a name, just became the first to receive a breakthrough gene therapy thanks to relentless research and breakthrough gene therapy. Hope in action. 💙 #raredisease #epilepsy #gentics
Full story: https://bit.ly/4oRXtWV
Full story: https://bit.ly/4oRXtWV
8-Year-Old Has Disease So Rare It Doesn't Have a Name. Now He's First in the World to Receive Treatment (Exclusive)
Amber Freed tells PEOPLE how she worked for years to find a treatment for her son Maxwell's SLC6A1 diagnosis, and finally got the treatment administered in September, making history in the process.
bit.ly
December 19, 2025 at 6:13 PM
8-year-old Maxwell, with a disease so rare it didn’t even have a name, just became the first to receive a breakthrough gene therapy thanks to relentless research and breakthrough gene therapy. Hope in action. 💙 #raredisease #epilepsy #gentics
Full story: https://bit.ly/4oRXtWV
Full story: https://bit.ly/4oRXtWV
Reposted by RASopathies Network
Spotlight: Jeff Hardin highlights recent work from @xsciteng.bsky.social et al. of the @jeffbush.bsky.social lab (rupress.org/jcb/article/...), studying the function of p120-catenin and #cadherin-mediated #adhesion in upper lip fusion in mammalian embryos. rupress.org/jcb/article/...
#Development
#Development
December 19, 2025 at 5:01 PM
Spotlight: Jeff Hardin highlights recent work from @xsciteng.bsky.social et al. of the @jeffbush.bsky.social lab (rupress.org/jcb/article/...), studying the function of p120-catenin and #cadherin-mediated #adhesion in upper lip fusion in mammalian embryos. rupress.org/jcb/article/...
#Development
#Development
Reposted by RASopathies Network
The estimated prevalence of #Epilepsy is substantially higher among individuals with neurofibromatosis type 1 (#NF1) compared to the general population, with reported rates ranging from 4% to 14% (vs 1% to 2%) depending on the age of onset.
Learn more: https://bit.ly/44xAbyz
#RareDisease #MedSky
Learn more: https://bit.ly/44xAbyz
#RareDisease #MedSky
Understanding the Elevated Risk of Epilepsy in Neurofibromatosis Type 1
Researchers found several significant predictive factors for epilepsy on brain MRIs in patients with NF1.
bit.ly
December 18, 2025 at 7:04 PM
The estimated prevalence of #Epilepsy is substantially higher among individuals with neurofibromatosis type 1 (#NF1) compared to the general population, with reported rates ranging from 4% to 14% (vs 1% to 2%) depending on the age of onset.
Learn more: https://bit.ly/44xAbyz
#RareDisease #MedSky
Learn more: https://bit.ly/44xAbyz
#RareDisease #MedSky
Glad you pointed this out. Seizures are concern for other RASopathies too, notably cardiofaciocutaneous (CFC) syndrome w/ mutations in BRAF, KRAS, MEK1 & MEK2. Treatment can be difficult because the go-to medications for epilepsy are often contraindicated for CFC patients with comorbid heart conds.
The estimated prevalence of #Epilepsy is substantially higher among individuals with neurofibromatosis type 1 (#NF1) compared to the general population, with reported rates ranging from 4% to 14% (vs 1% to 2%) depending on the age of onset.
Learn more: https://bit.ly/44xAbyz
#RareDisease #MedSky
Learn more: https://bit.ly/44xAbyz
#RareDisease #MedSky
Understanding the Elevated Risk of Epilepsy in Neurofibromatosis Type 1
Researchers found several significant predictive factors for epilepsy on brain MRIs in patients with NF1.
bit.ly
December 18, 2025 at 7:23 PM
Glad you pointed this out. Seizures are concern for other RASopathies too, notably cardiofaciocutaneous (CFC) syndrome w/ mutations in BRAF, KRAS, MEK1 & MEK2. Treatment can be difficult because the go-to medications for epilepsy are often contraindicated for CFC patients with comorbid heart conds.
🧪🧬
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...
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...
Exploiting cellular degradation machinery as a potential treatment strategy for RAS-driven cancers | Frederick National Laboratory
Image
frederick.cancer.gov
December 18, 2025 at 2:36 PM
🧪🧬
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...
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...
Reposted by RASopathies Network
Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1 - Nature
Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1 - Nature
Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1 - Nature
news.google.com
December 16, 2025 at 9:56 PM
Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1 - Nature
🧪🫁 Haven't heard too much about pulmonary hypertension in #Noonan syndrome before. Here is a report from one center.
pubmed.ncbi.nlm.nih.gov/41381222/
pubmed.ncbi.nlm.nih.gov/41381222/
Pulmonary hypertension in patients with Noonan syndrome - PubMed
Precapillary and postcapillary PH may complicate the course of NS, potentially in association with congenital heart defects and multisystem manifestations. Further studies are needed to better delineate the phenotype of PH in patients with NS.
pubmed.ncbi.nlm.nih.gov
December 15, 2025 at 3:17 PM
🧪🫁 Haven't heard too much about pulmonary hypertension in #Noonan syndrome before. Here is a report from one center.
pubmed.ncbi.nlm.nih.gov/41381222/
pubmed.ncbi.nlm.nih.gov/41381222/
Reposted by RASopathies Network
Our colleagues in RDCat (Rare Disease Research Catalyst Consortium) are a group of Irish-based healthcare professionals, researchers, advocacy groups and people living with rare diseases. They are seeking a new team member! www.ucd.ie/workatucd... Job Ref: 019222, Closing 2/1/26
December 15, 2025 at 12:47 PM
Our colleagues in RDCat (Rare Disease Research Catalyst Consortium) are a group of Irish-based healthcare professionals, researchers, advocacy groups and people living with rare diseases. They are seeking a new team member! www.ucd.ie/workatucd... Job Ref: 019222, Closing 2/1/26
🧪 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/...
🫀Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome–Associated Obstructive Hypertrophic Cardiomyopathy | JACC: Case Reports
#medsky #cardiosky
www.jacc.org/doi/10.1016/...
Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome–Associated Obstructive Hypertrophic Cardiomyopathy:
www.jacc.org
December 6, 2025 at 3:22 PM
🧪 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/...
🫀Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome–Associated Obstructive Hypertrophic Cardiomyopathy | JACC: Case Reports
#medsky #cardiosky
www.jacc.org/doi/10.1016/...
Reposted by RASopathies Network
The Office of Science and Technology Policy (OSTP) is seeking input on Federal policy updates to accelerate the American scientific enterprise.
This is your chance to give some feedback on how the past ~10 months have gone for science.
www.federalregister.gov/documents/20...
I plan to highlight:
This is your chance to give some feedback on how the past ~10 months have gone for science.
www.federalregister.gov/documents/20...
I plan to highlight:
Notice of Request for Information; Accelerating the American Scientific Enterprise
The Office of Science and Technology Policy (OSTP) requests input from all interested parties on Federal policy updates that aim to accelerate the American scientific enterprise, enable groundbreaking...
www.federalregister.gov
December 4, 2025 at 1:00 AM
The Office of Science and Technology Policy (OSTP) is seeking input on Federal policy updates to accelerate the American scientific enterprise.
This is your chance to give some feedback on how the past ~10 months have gone for science.
www.federalregister.gov/documents/20...
I plan to highlight:
This is your chance to give some feedback on how the past ~10 months have gone for science.
www.federalregister.gov/documents/20...
I plan to highlight:
Reposted by RASopathies Network
Less than one week to get your applications in! #DisabledInSTEM
It's that time of year again... time for #DisabledInSTEM 2026 Mentorship applications! I'm so excited to be running this program for the sixth year and seeing the growth over the years!
Mentee form: forms.gle/um5DvYnBi3tn...
Mentor form: forms.gle/BvaxnQm8uhUR...
Applications due December 5th!
Mentee form: forms.gle/um5DvYnBi3tn...
Mentor form: forms.gle/BvaxnQm8uhUR...
Applications due December 5th!
November 29, 2025 at 6:45 PM
Less than one week to get your applications in! #DisabledInSTEM
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/
#rasopathies #raredisease #noonansyndrome #RAS #MAPK
🧪 🧠 #neurosky #pedsky #medsky
pubmed.ncbi.nlm.nih.gov/41310115/
November 29, 2025 at 3:42 PM
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/
#rasopathies #raredisease #noonansyndrome #RAS #MAPK
🧪 🧠 #neurosky #pedsky #medsky
pubmed.ncbi.nlm.nih.gov/41310115/
Reposted by RASopathies Network
#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/
"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/
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...
pubmed.ncbi.nlm.nih.gov
January 1, 2025 at 9:10 PM
#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/
"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/
More on #RASopathies and lymphatic anomalies. Several cases reported.
link.springer.com/article/10.1...
link.springer.com/article/10.1...
November 23, 2025 at 10:18 PM
More on #RASopathies and lymphatic anomalies. Several cases reported.
link.springer.com/article/10.1...
link.springer.com/article/10.1...
Reposted by RASopathies Network
The law of the jungle.
Interactions of cells in a collective lead to global rotation.
In 80% of the case HUVEC cells turn clockwise.
How many cells does it take for this to happen?
Interactions of cells in a collective lead to global rotation.
In 80% of the case HUVEC cells turn clockwise.
How many cells does it take for this to happen?
November 21, 2025 at 1:07 PM
The law of the jungle.
Interactions of cells in a collective lead to global rotation.
In 80% of the case HUVEC cells turn clockwise.
How many cells does it take for this to happen?
Interactions of cells in a collective lead to global rotation.
In 80% of the case HUVEC cells turn clockwise.
How many cells does it take for this to happen?