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?...
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?
Reposted by RASopathies Network
#KnowYourZDM or ‘Know Your Zebrafish Disease Model’ features ways the miniature fish is helping doctors and researchers fight human diseases. Stay tuned for more on this series!
#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 20, 2025 at 7:26 PM
#KnowYourZDM or ‘Know Your Zebrafish Disease Model’ features ways the miniature fish is helping doctors and researchers fight human diseases. Stay tuned for more on this series!
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. 🧪
Reposted by RASopathies Network
Children with neurofibromatosis 1 (#NF1) may develop excess growth hormone and optic pathway glioma (#OPG), which can be treated with somatostatin analogs.
Read here: https://bit.ly/4pjDhy4
#RareDisease #Neurofibromatosis1 #GrowthHormone #MedSky
Read here: https://bit.ly/4pjDhy4
#RareDisease #Neurofibromatosis1 #GrowthHormone #MedSky
Somatostatin Analogs Effectively Treat Excess Growth Hormone in Pediatric NF1
An analysis of patient outcomes showed that treatment with somatostatin analogs was effective in normalizing insulin-like growth factor-1.
bit.ly
November 17, 2025 at 8:02 PM
Children with neurofibromatosis 1 (#NF1) may develop excess growth hormone and optic pathway glioma (#OPG), which can be treated with somatostatin analogs.
Read here: https://bit.ly/4pjDhy4
#RareDisease #Neurofibromatosis1 #GrowthHormone #MedSky
Read here: https://bit.ly/4pjDhy4
#RareDisease #Neurofibromatosis1 #GrowthHormone #MedSky
Reposted by RASopathies Network
Important new analysis identifying the scope of clinical trials disrupted because of NIH shenanigans.
> 74 thousand trial participants affected
jamanetwork.com/journals/jam...
1/4
> 74 thousand trial participants affected
jamanetwork.com/journals/jam...
1/4
Clinical Trials Affected by Research Grant Terminations at the National Institutes of Health
This cross-sectional study summarizes the number of trials with terminated grants from the National Institutes of Health (NIH) and calculates the proportion of affected trials among those with previou...
jamanetwork.com
November 17, 2025 at 5:45 PM
Important new analysis identifying the scope of clinical trials disrupted because of NIH shenanigans.
> 74 thousand trial participants affected
jamanetwork.com/journals/jam...
1/4
> 74 thousand trial participants affected
jamanetwork.com/journals/jam...
1/4
Reposted by RASopathies Network
Reposted by RASopathies Network
“Critically assessing the literature, we found it beset by conceptual & methodological flaws & limitations, undermining claims that the gut microbiome is causally involved in etiology/pathophysiology of autism”
Crucial PSA from @wiringthebrain.bsky.social @statsepi.bsky.social @deevybee.bsky.social🧪
Crucial PSA from @wiringthebrain.bsky.social @statsepi.bsky.social @deevybee.bsky.social🧪
Conceptual and methodological flaws undermine claims of a link between the gut microbiome and autism
Claims that the gut microbiome causally contributes to autism regularly appear in
the scientific literature and popular press. Mitchell et al. critically examine influential
studies underpinning these...
www.cell.com
November 13, 2025 at 9:18 PM
“Critically assessing the literature, we found it beset by conceptual & methodological flaws & limitations, undermining claims that the gut microbiome is causally involved in etiology/pathophysiology of autism”
Crucial PSA from @wiringthebrain.bsky.social @statsepi.bsky.social @deevybee.bsky.social🧪
Crucial PSA from @wiringthebrain.bsky.social @statsepi.bsky.social @deevybee.bsky.social🧪
Reposted by RASopathies Network
🚨🚨 INFANT FORMULA RECALL 🚨🚨
Please share widely
👇
Please share widely
👇
ALERT: Baby Formula
13 cases of infant botulism reported from Aug through Nov 2025 coming in 10 states thus far. Please see web content for specifics on lot numbers and more.
Special shoutout to our friends and colleagues at CDC and FDA who got this out quickly all while not being paid.
13 cases of infant botulism reported from Aug through Nov 2025 coming in 10 states thus far. Please see web content for specifics on lot numbers and more.
Special shoutout to our friends and colleagues at CDC and FDA who got this out quickly all while not being paid.
Infant Botulism Outbreak Linked to Infant Formula, November 2025
Details on an outbreak of infant botulism linked to infant formula, November 2025.
www.cdc.gov
November 9, 2025 at 3:25 AM
🚨🚨 INFANT FORMULA RECALL 🚨🚨
Please share widely
👇
Please share widely
👇
Reposted by RASopathies Network
My continued biomedical education
Structural immunity: immune cells as architects of tissue barriers
Beyond destroying, Macrophages & Neutrophils also build - transport/synthesize/deposit matrix components during skin repair or myocardial fibrosis
#NatRevImmun 2025
www.nature.com/articles/s41...
Structural immunity: immune cells as architects of tissue barriers
Beyond destroying, Macrophages & Neutrophils also build - transport/synthesize/deposit matrix components during skin repair or myocardial fibrosis
#NatRevImmun 2025
www.nature.com/articles/s41...
November 10, 2025 at 12:45 PM
My continued biomedical education
Structural immunity: immune cells as architects of tissue barriers
Beyond destroying, Macrophages & Neutrophils also build - transport/synthesize/deposit matrix components during skin repair or myocardial fibrosis
#NatRevImmun 2025
www.nature.com/articles/s41...
Structural immunity: immune cells as architects of tissue barriers
Beyond destroying, Macrophages & Neutrophils also build - transport/synthesize/deposit matrix components during skin repair or myocardial fibrosis
#NatRevImmun 2025
www.nature.com/articles/s41...
Reposted by RASopathies Network
Getting--or got--a PhD? Got boogie in your soul? Then don't be shy. Enter this year's contest--and dance, dance, dance! @science.org
Science’s ‘Dance Your Ph.D.’ contest is open again—with an all new, AI twist
For the first time, there’s a special prize for a research-themed dance generated by an artificial intelligence program
www.science.org
November 5, 2025 at 1:45 PM
Getting--or got--a PhD? Got boogie in your soul? Then don't be shy. Enter this year's contest--and dance, dance, dance! @science.org
🧪 #oncosky #medsky #pedsky Therapeutic radiation drives leptomeningeal dissemination of medulloblastoma through an innate immune process: Developmental Cell www.cell.com/developmenta...
Therapeutic radiation drives leptomeningeal dissemination of medulloblastoma through an innate immune process
Radiation, the most effective treatment for medulloblastoma, induces an innate immune
response and opens the blood-brain barrier, allowing for the intravasation of tumor
cells into the blood circulati...
www.cell.com
November 5, 2025 at 1:42 PM
🧪 #oncosky #medsky #pedsky Therapeutic radiation drives leptomeningeal dissemination of medulloblastoma through an innate immune process: Developmental Cell www.cell.com/developmenta...
Reposted by RASopathies Network
🐸 Xenopus laevis 💚 The frog that shaped modern developmental biology! ✨ Xenopus embryos have revealed how the body axis forms, cells choose their fate, and tissues self-organize during early development 📹 Video by Bioquest Sudio and Xenbase #ModelMonday #DevBio
November 3, 2025 at 8:01 PM
🐸 Xenopus laevis 💚 The frog that shaped modern developmental biology! ✨ Xenopus embryos have revealed how the body axis forms, cells choose their fate, and tissues self-organize during early development 📹 Video by Bioquest Sudio and Xenbase #ModelMonday #DevBio
😱
A previously healthy man presented with a 10-day history of blood dripping from one nostril. Twenty days earlier, he had washed his face with mountain spring water. A leech was found on nasal endoscopy (shown in a video). Read the full case details: nej.md/3J6IZUD
#MedSky #Otolaryngology
#MedSky #Otolaryngology
November 3, 2025 at 8:19 PM
😱
YES! this is an amazing win and amazing team. @ahrensnicklas.bsky.social
💥 🧬 🧪 Gene Therapy for Rare Genetic Disease
Child unable to produce the normal form of a crucial liver enzyme called carbamoyl-phosphate synthetase 1 (CPS1) - improved after treatment that was created in 6 months
Child unable to produce the normal form of a crucial liver enzyme called carbamoyl-phosphate synthetase 1 (CPS1) - improved after treatment that was created in 6 months
November 3, 2025 at 3:51 PM
YES! this is an amazing win and amazing team. @ahrensnicklas.bsky.social
🧪🦴🩺 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
#medsky
November 2, 2025 at 1:10 PM
🧪🦴🩺 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
#medsky
Reposted by RASopathies Network
Myelin damage in multiple sclerosis can be detected up to seven years before symptoms, with early immune pathway activation and a 21-protein panel showing promise for presymptomatic diagnosis, according to a paper in Nature Medicine. go.nature.com/4qqq47L #medsky 🧪
November 1, 2025 at 1:50 AM
Myelin damage in multiple sclerosis can be detected up to seven years before symptoms, with early immune pathway activation and a 21-protein panel showing promise for presymptomatic diagnosis, according to a paper in Nature Medicine. go.nature.com/4qqq47L #medsky 🧪
Reposted by RASopathies Network
Happy Halloween and #FluorescenceFriday 👻🔬
October 31, 2025 at 6:52 PM
Happy Halloween and #FluorescenceFriday 👻🔬
Reposted by RASopathies Network
Save the date and register for abstract updates for @dmmjournal.bsky.social's 2026 Journal Meeting. 'Innovative Preclinical Models for Pediatric Cancer Research'. biologists.com/meetings/dmm... #DMM2026cancer
October 31, 2025 at 8:01 AM
Save the date and register for abstract updates for @dmmjournal.bsky.social's 2026 Journal Meeting. 'Innovative Preclinical Models for Pediatric Cancer Research'. biologists.com/meetings/dmm... #DMM2026cancer
Reposted by RASopathies Network
Ascidians (Ciona intestinalis)🪸Our distant chordate cousins! 🌊 Simple sea squirts that reveal how vertebrate body plans evolved 🧬 A key model for notochord formation, neural induction, and cell lineage mapping 📸 Video by MBL Embryology 2019 #ModelMonday #DevBio #EvoDevo
October 28, 2025 at 12:46 AM
Ascidians (Ciona intestinalis)🪸Our distant chordate cousins! 🌊 Simple sea squirts that reveal how vertebrate body plans evolved 🧬 A key model for notochord formation, neural induction, and cell lineage mapping 📸 Video by MBL Embryology 2019 #ModelMonday #DevBio #EvoDevo
Reposted by RASopathies Network
Now online @nature.com!
Want to change the consequences of receptor activation?
Small molecules binding the GPCR-transducer interface change G protein subtype preference in predictable ways, enabling rational drug design 💥
So many new possibilities! 🧪🧠🟦
www.nature.com/articles/s41...
🧵👇
Want to change the consequences of receptor activation?
Small molecules binding the GPCR-transducer interface change G protein subtype preference in predictable ways, enabling rational drug design 💥
So many new possibilities! 🧪🧠🟦
www.nature.com/articles/s41...
🧵👇
Designing allosteric modulators to change GPCR G protein subtype selectivity - Nature
Studies of the G-protein-coupled receptor NTSR1 show that the G protein selectivity of this receptor can be modified by small molecules, enabling the design of drugs that work by switching receptor su...
www.nature.com
October 27, 2025 at 8:50 PM
Now online @nature.com!
Want to change the consequences of receptor activation?
Small molecules binding the GPCR-transducer interface change G protein subtype preference in predictable ways, enabling rational drug design 💥
So many new possibilities! 🧪🧠🟦
www.nature.com/articles/s41...
🧵👇
Want to change the consequences of receptor activation?
Small molecules binding the GPCR-transducer interface change G protein subtype preference in predictable ways, enabling rational drug design 💥
So many new possibilities! 🧪🧠🟦
www.nature.com/articles/s41...
🧵👇
Among patients undergoing transcatheter atrial septal defect closure, a bioresorbable occluder was noninferior to a metallic occluder for 6-month and 2-year closure success and device safety.
ja.ma/47oopHo
ja.ma/47oopHo
October 27, 2025 at 12:45 PM
🧪 #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
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
Genotype–phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study | Molecular Autism
rdcu.be
October 26, 2025 at 6:05 PM
🧪 #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
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
A really devastating medical problem for patients and an understudied field. Want to learn more about complex lymphatic anomalies? This is an excellent advocacy group with great resources lgdalliance.org
October 26, 2025 at 5:46 PM
A really devastating medical problem for patients and an understudied field. Want to learn more about complex lymphatic anomalies? This is an excellent advocacy group with great resources lgdalliance.org
Reposted by RASopathies Network
#KnowYourZDM: Humans and #zebrafish carrying mutations in VEGFC or its receptor (FLT4) have defects in the formation of their lymphatic systems, which are important for draining lymph back into the circulation system. As a result, these individuals display severe #lymphedema. 🧪
October 26, 2025 at 5:31 PM
#KnowYourZDM: Humans and #zebrafish carrying mutations in VEGFC or its receptor (FLT4) have defects in the formation of their lymphatic systems, which are important for draining lymph back into the circulation system. As a result, these individuals display severe #lymphedema. 🧪