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rasnet.bsky.social
RASopathies Network
@rasnet.bsky.social
360 followers 620 following 210 posts
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease
by Stronach in Pittsburgh
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rasnet.bsky.social
RASopathies Network @rasnet.bsky.social · Nov 25
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
Reposted by RASopathies Network
jenna-m-norton.bsky.social
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:
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
Reposted by RASopathies Network
disabledinstem.bsky.social
Less than one week to get your applications in! #DisabledInSTEM
disabledinstem.bsky.social DisabledInSTEM @disabledinstem.bsky.social · Oct 20
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!
Promotional graphic for the DisabledInSTEM 2026 Mentorship Program. The background is a dark blue gradient with flowing wave-like patterns in blue and gold. At the top, white text reads: “DisabledInSTEM 2026 Mentorship Applications Now Open.” Below, a yellow box with black text says: “Seeking Disabled Mentees and Dedicated Mentors to Champion Inclusion in STEM.” At the bottom, white text states: “Applications due December 5th.” In the lower right corner, there is the DisabledInSTEM logo.
November 29, 2025 at 6:45 PM
rasnet.bsky.social
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.
November 29, 2025 at 3:42 PM
Reposted by RASopathies Network
rasnet.bsky.social
#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/
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
rasnet.bsky.social
More on #RASopathies and lymphatic anomalies. Several cases reported.
link.springer.com/article/10.1...
November 23, 2025 at 10:18 PM
Reposted by RASopathies Network
manuelthery.bsky.social
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?
November 21, 2025 at 1:07 PM
Reposted by RASopathies Network
zebrafishrock.bsky.social
#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!
zebrafishrock.bsky.social Zebrafish Rock! @zebrafishrock.bsky.social · 13d
#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! 🧪
Zebrafish are an excellent model for studying the development and function of blood and lymphatic vessels. Research in zebrafish has even led to treatments for lymphatic disorders in people. This image, taken using a powerful microscope that uses lasers to illuminate the fish, shows blood vessels (magenta) and lymphatic vessels (green) in the eye and head of an anesthetized, 6-week-old, transgenic zebrafish. Credit: Daniel Castranova, National Institute of Child Health and Human Development, NIH
November 20, 2025 at 7:26 PM
rasnet.bsky.social
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. 🧪
zebrafishrock.bsky.social Zebrafish Rock! @zebrafishrock.bsky.social · 13d
#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! 🧪
Zebrafish are an excellent model for studying the development and function of blood and lymphatic vessels. Research in zebrafish has even led to treatments for lymphatic disorders in people. This image, taken using a powerful microscope that uses lasers to illuminate the fish, shows blood vessels (magenta) and lymphatic vessels (green) in the eye and head of an anesthetized, 6-week-old, transgenic zebrafish. Credit: Daniel Castranova, National Institute of Child Health and Human Development, NIH
November 21, 2025 at 1:40 PM
Reposted by RASopathies Network
rarediseaseadvisor.bsky.social
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
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
Reposted by RASopathies Network
jeremymberg.bsky.social
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
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
Reposted by RASopathies Network
natty4bumpo.bsky.social
www.theguardian.com/us-news/2025...
Alice Wong, ‘luminary’ writer and disability rights activist, dies aged 51
Daughter of immigrants advocated for people with disabilities to have full autonomy over their lives
www.theguardian.com
November 16, 2025 at 1:34 PM
Reposted by RASopathies Network
profsimonfisher.bsky.social
“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🧪
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
Reposted by RASopathies Network
altcdc.altgov.info
🚨🚨 INFANT FORMULA RECALL 🚨🚨

Please share widely

👇
firedbutfighting.bsky.social Fired but Fighting (National Public Health Coalition) @firedbutfighting.bsky.social · 25d
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.
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
Reposted by RASopathies Network
haoyin.bsky.social
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...
November 10, 2025 at 12:45 PM
Reposted by RASopathies Network
david-grimm.bsky.social
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
rasnet.bsky.social
🧪 #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
Reposted by RASopathies Network
socdevbio.bsky.social
🐸 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
rasnet.bsky.social
😱
nejm.org NEJM.org @nejm.org · Nov 3
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
November 3, 2025 at 8:19 PM
rasnet.bsky.social
YES! this is an amazing win and amazing team. @ahrensnicklas.bsky.social
kinesinmotors.bsky.social kinesinmotors.bsky.social @kinesinmotors.bsky.social · Nov 3
💥 🧬 🧪 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
November 3, 2025 at 3:51 PM
rasnet.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
November 2, 2025 at 1:10 PM
Reposted by RASopathies Network
natureportfolio.nature.com
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 🧪
This is figure 4, which shows protein–protein network analysis reveals protein networks involved in pwMS.
November 1, 2025 at 1:50 AM
Reposted by RASopathies Network
mahjoublab.bsky.social
Happy Halloween and #FluorescenceFriday 👻🔬
October 31, 2025 at 6:52 PM
Reposted by RASopathies Network
biologists.bsky.social
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
Innovative Preclinical Models for Pediatric Cancer Research Organisers: James Amatruda, Pratiti (Mimi) Bandopadhayay, Ana Banito and Elaine Mardis Date: 13 - 15 October 2026 Location: Nationwide Children's Hospital Conference Center, Columbus, Ohio, USA
October 31, 2025 at 8:01 AM
Reposted by RASopathies Network
socdevbio.bsky.social
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
Reposted by RASopathies Network
laurenslosky.bsky.social
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...

🧵👇
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