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RASopathies Network

@rasnet.bsky.social
465 followers 823 following 352 posts

Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease by Stronach in Pittsburgh

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RASopathies Network @rasnet.bsky.social · 10h
I knew I recognized those beautiful vessels.
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Kristen Stuppy, MD, FAAP @pediatricskc.medsky.network · 04/10/2026
Teens with ADHD often complain that they feel left out or that they don’t have friends. Parents can help guide them to use social skills and regulate emotions before they lose control to help them feel like they fit in better without masking who they really are.
drkristenstuppy.substack.com
Helping Adolescents with ADHD Navigate Social Struggles
A Guide for Parents
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The Conversation U.S. @us.theconversation.com · 03/10/2026
Redevelopment without gentrification? A decade of research on Pittsburgh's Hazelwood neighborhood finds that the major riverfront investment was done without pushing out longtime residents.
theconversation.com
Can development happen without displacement? Pittsburgh’s Hazelwood neighborhood is a test case
A decade of research on Pittsburgh’s Hazelwood neighborhood finds that major riverfront investment did not push out longtime residents.
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Princess Vimentin PhD | Cancer Biologist @princess-vimentin.bsky.social · 02/10/2026
This is huge! Another cancer responds well to immunotherapy. A child had metastatic liver cancer. The patient had chemotherapy & a liver resection. No avail. Then: Two infusions, eight weeks apart. Doctors saw complete regression. No systemic toxicity. 🧪 www.bcm.edu/news/care-st...
bcm.edu
CARE study reports complete regression of liver cancer in a child treated with novel immunotherapy
A new report in the New England Journal of Medicine by researchers at Baylor College of Medicine, Texas Children’s Hospital and Seattle Children’s...
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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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The Ehlers-Danlos Society @ehlers-danlos.com · 02/10/2026
October is Dysautonomia Awareness Month. ⁠ ⁠ Dysautonomia, also called autonomic dysfunction, is a group of disorders that affect the autonomic nervous system.⁠ ⁠
Graphic titled “Symptoms of Dysautonomia” showing seven human silhouettes illustrating common symptoms: tachycardia (fast heart rate), hypotension (low blood pressure), dizziness or lightheadedness, gastrointestinal dysmotility (problems moving food through the digestive system), temperature and sweating dysregulation, sleep problems, and bladder issues.
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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 · 02/10/2026
Oooh, excited to learn more on @scifri.bsky.social 1 in 5 people w a RASopathy condition have lymphatic problems and it can be devastating in newborns See: Central Conducting Lymphatic Anomalies
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American Association for Cancer Research (AACR) @theaacr.bsky.social · 28/09/2026
AACR and Kids Beating Cancer announced a new grant at the AACR Special Conference on Pediatric Cancer that will fund researchers who are studying pediatric leukemia. Read more about this new collaboration and the grant on the #AACRBlog: buff.ly/Kp7EVE4 #AACRpediatric26
buff.ly
AACR and Kids Beating Cancer Launch New Grant to Advance Pediatric Leukemia Research
AACR and Kids Beating Cancer launched a new grant to support research aimed at improving outcomes for children with high-risk leukemia.
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RASopathies Network @rasnet.bsky.social · 27/09/2026
acknowledged he's trying to listen maybe performatively but any attempt at bipartisan pushback on the OMB steamroller is welcome
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RASopathies Network @rasnet.bsky.social · 27/09/2026
McCormick is our senator. At least he is acknowledging that investing in science is a good thing. The universities in PA are major drivers of regional economies, he knows that.
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RASopathies Network @rasnet.bsky.social · 27/09/2026
Happy to see this.
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Nick (derogatory) 🎃 @slothropsmap.bsky.social · 26/09/2026
Ghost lobster, ghost lobster! Read all about it!
people.com
Meet Casper, the 1-in-100-Million White ‘Ghost’ Lobster Helping Scientists Crack a Genetic Mystery
The white lobster, aptly named Casper, has arrived at the University of New England, where researchers are working to uncover why some lobsters develop dramatically unusual shell colors
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Sarah McAnulty, Ph.D. @sarahmackattack.bsky.social · 26/09/2026
Anybody who would decide to close this museum does not have Philadelphia’s best interests at heart.
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RASopathies Network @rasnet.bsky.social · 26/09/2026
Whooo boy, me old, I can relate.
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AACR Journals @aacrjournals.bsky.social · 25/09/2026
Read: "RAS Pathway Activation and Microenvironmental Adaptation as Hallmarks of Myeloid Sarcoma" from this month's issue of Blood Cancer Discovery. buff.ly/O9S6B09
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CT Rare Advocate @rarectadvocate.com · 23/09/2026
Hypoplastic Left Heart Syndrome (HLHS): a rare congenital heart defect where the left side of the heart is underdeveloped. Often found on prenatal ultrasound; treated with staged surgeries. Learn more: littlehearts.org You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness
Info card for Hypoplastic Left Heart Syndrome (HLHS), a rare congenital heart defect in which the left side of the heart is severely underdeveloped. The card notes that HLHS is often detected on prenatal ultrasound and is treated with a series of three surgeries. Key symptoms include bluish skin color, fast breathing, and poor feeding. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"
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RASopathies Network @rasnet.bsky.social · 15/09/2026
🧪💊Excited to share another #RASDialogueBlog post from NCI's Frederick National Labs. Could a new molecular glue targeting #RAF and #RAS pathway be used to normalize signaling for #Noonansyndrome patients? Work from the lab of Michelle Arkin! #oncosky #medsky frederick.cancer.gov/news/restori...
frederick.cancer.gov
Restoring the brake: Using molecular glues to fix a broken CRAF off-switch in Noonan Syndrome | Frederick National Laboratory
The RAS Dialogue Blog posts are written by RAS experts sharing the latest research, updates, and scientific RAS news. The content is curated by the RAS Initiative.
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American Association for Cancer Research (AACR) @theaacr.bsky.social · 15/09/2026
Submit an abstract by November 2 for the AACR Conference on Targeting RAS: Mechanisms, Novel Therapeutics, and Clinical Impact (January 28-31; San Diego), chaired by Ryan B. Corcoran, Julian Downward, Ignacio Garrido-Laguna, and Sandra Misale. buff.ly/i0N1m1e #AACRras27 @juliandownward.bsky.social
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RASopathies Network @rasnet.bsky.social · 15/09/2026
🧪💊Excited to share another #RASDialogueBlog post from NCI's Frederick National Labs. Could a new molecular glue targeting #RAF and #RAS pathway be used to normalize signaling for #Noonansyndrome patients? Work from the lab of Michelle Arkin! #oncosky #medsky frederick.cancer.gov/news/restori...
frederick.cancer.gov
Restoring the brake: Using molecular glues to fix a broken CRAF off-switch in Noonan Syndrome | Frederick National Laboratory
The RAS Dialogue Blog posts are written by RAS experts sharing the latest research, updates, and scientific RAS news. The content is curated by the RAS Initiative.
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RASopathies Network @rasnet.bsky.social · 14/09/2026
Aha! so simple thx
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RASopathies Network @rasnet.bsky.social · 14/09/2026
What does SLiM refer to?
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Matt Henderson @matthen.com · 13/09/2026
Approximating the Lorenz attractor with a chaotic leaky water wheel. The orange dot is the centre of mass of the water. It traces (a projection of) the familiar attractor as the wheel spins seemingly randomly left and right.
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RASopathies Network @rasnet.bsky.social · 11/09/2026
🧪🧠🫀🩺 NEW: Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1‐Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature onlinelibrary.wiley.com/doi/10.1002/... #pedsky #medsky #cardiosky
onlinelibrary.wiley.com
The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With <fc><fi>LZTR1</fi></fc>‐Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature
Pathogenic variants in LZTR1 are an established cause of Noonan syndrome (NS) and uniquely exhibit both autosomal dominant (AD) and autosomal recessive (AR) inheritance. However, the phenotypic spect....
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UCSF Helen Diller Family Comprehensive Cancer Center @ucsfcancer.bsky.social · 11/09/2026
In the latest @cancerletter.com podcast, Dr. Frank McCormick @ucsanfrancisco.bsky.social discusses the wider implications of the recent FDA approved the RAS inhibitor, daraxonrasib cancerletter.com/podcastc/202...
Frank McCormick, PhD, FRS of the UCSF Helen Diller Family Comprehensive Cancer Center
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Ricard Alert Zenón @ricardalert.bsky.social · 08/09/2026
New paper out @natcellbio.nature.com! In embryos, immune cell migration is guided by the surrounding tissue flow. In turn, tissue flow is captured by active wetting theory, generalized to include influx from the upper cell aggregate! Check the thread below! 👇 www.nature.com/articles/s41...
nature.com
Tissue flow acts as a guidance cue for immune cell polarization and directional migration - Nature Cell Biology
Le et al. show that in Xenopus embryos, local ectodermal tissue flows provide a directional cue that polarizes and guides embryonic myeloid cells migration via cell-on-cell interactions.
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RASopathies Network @rasnet.bsky.social · 31/08/2026
Pennsylvania, where the mushrooms grow mushrooms 🍄
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Science X / Phys.org @sciencex.bsky.social · 29/08/2026
Cancer drugs that block BRAF reduced sensitivity to touch, pressure and heat in preclinical models of chronic nerve pain. The findings suggest therapeutic potential, but dosing and side effects still need study. doi.org/hcg7s7
medicalxpress.com
Preclinical study points to cancer drugs as possible treatments for chronic nerve pain
Researchers at The University of Texas MD Anderson Cancer Center have found new evidence that BRAF, a protein commonly involved in cancer, plays a key role in developing, amplifying and maintaining chronic pain caused by nerve damage.
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Jeremy Berg @jeremymberg.bsky.social · 27/08/2026
Excited to see these traces of the history of important therapeutics. Today's is the first of 12. It is about ras and ras inhibitors. By coincidence/karma, the first ras inhibitor for pancreatic cancer was approved by the FDA yesterday. Reactions and comments welcome! @standupforscience.net
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Simon Fisher @profsimonfisher.bsky.social · 27/08/2026
“This work establishes a scalable framework for systematic interrogation of the autism proteome, enables prioritization of druggable protein interfaces, & provides a rational foundation for precision therapeutic strategies aimed at restoring neurodevelopmental trajectories.” New in @science.org 👇🧪
science.org
Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology
Systematic mapping of protein-protein interaction (PPI) networks and determining how causal mutations rewire them in autism spectrum disorder (ASD) provide a powerful framework for uncovering disease ...
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Carl Zimmer @carlzimmer.com · 27/08/2026
Scientists are drawing the map of autism-linked proteins in search of treatments. Here’s a story on an ambitious new study. Gift link: nyti.ms/4wWPZpM
A map of autism-linked proteins (diamonds) and proteins they partner with (circles). Wang et al, Science 2026.
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RASopathies Network @rasnet.bsky.social · 27/08/2026
We #standupforscience because that is how we better understand the signs and symptoms of genetic diseases and how to treat them. Without dedicated research, many rare disease patients (an really anyone who is sick) just languish awaiting a 'miracle'.
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RASopathies Network @rasnet.bsky.social · 27/08/2026
therapeutics targeting RAS and the RAS pathway are potential treatments for RASopathies too!! But instead of turning RAS off completely, we need to turn it down to "normalize" signaling in these conditions.
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RASopathies Network @rasnet.bsky.social · 27/08/2026
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
rasopathiesnet.org
Home - The RASopathies Network
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Stefan Marciniak @profmarciniak.bsky.social · 26/08/2026
“Recorded SARS-CoV-2 infection was associated with higher short-term risks of myocarditis, pericarditis, and all-cause mortality than recorded BNT162b2 vaccination in adolescents and young adults” Infection is worse than vaccination — who knew? www.sciencedirect.com/science/arti...
sciencedirect.com
Cardiac outcomes following SARS-CoV-2 infection versus BNT162b2 vaccination in adolescents and young adults: a cohort study of 4 million individuals
Concerns about myocarditis and mortality after COVID-19 vaccination in pediatrics persist despite limited direct comparisons with SARS-CoV-2 infection…
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Josie Glausiusz @josiegz.bsky.social · 26/08/2026
In every science article I write, I'm always looking for the humanity inside the story. So it was a privilege to learn from researchers looking for new treatments for disabilities with which they themselves were diagnosed. My latest @natureportfolio.nature.com www.nature.com/articles/d41...
nature.com
Researcher, heal thyself: meet the scientists studying their own diseases
Studying a condition after being diagnosed with it can be rewarding but also presents some ethical and psychological challenges.
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Memorial Sloan Kettering Cancer Center @mskcancercenter.bsky.social · 26/08/2026
The FDA has approved #daraxonrasib for certain patients with metastatic pancreatic cancer. MSK’s Dr. Eileen O'Reilly led the phase 3 trial showing it doubled median survival compared with chemotherapy. Learn more about the approval and what it could mean for patients: bit.ly/4zM7xYv
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RASopathies Network @rasnet.bsky.social · 25/08/2026
BRAF recruitment to spinal sensory synapses promotes neuropathic pain by potentiating transsynaptic NMDA receptor activity | Science Signaling www.science.org/doi/10.1126/...
science.org
BRAF recruitment to spinal sensory synapses promotes neuropathic pain by potentiating transsynaptic NMDA receptor activity
Blocking the kinase BRAF reduces nociceptive transmission in spinal cord after injury.
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CT Rare Advocate @rarectadvocate.com · 25/08/2026
Ménétrier Disease is a rare gastric disorder causing severe thickening of the stomach lining, driven by excess EGFR signaling, chronic protein loss, and elevated gastric cancer risk. Learn more: dub.sh/menetrier You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness
Info card for Ménétrier Disease, a rare gastric disorder in which overgrowth of the stomach lining causes chronic protein loss. The card notes it affects fewer than 1,000 people worldwide and lists epigastric pain and fatigue among key symptoms. Footer reads: "You may be rare, but you're not alone! rarectadvocate.com"
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The Company of Biologists @biologists.bsky.social · 26/08/2026
Deadline is 31 August to register for the Innovative Preclinical Models for Pediatric Cancer Research meeting, hosted by @dmmjournal.bsky.social. Hear talks from an outstanding line up of speakers and apply to present a poster. www.biologists.com/meetings/dmm...
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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 · 25/08/2026
BRAF recruitment to spinal sensory synapses promotes neuropathic pain by potentiating transsynaptic NMDA receptor activity | Science Signaling www.science.org/doi/10.1126/...
science.org
BRAF recruitment to spinal sensory synapses promotes neuropathic pain by potentiating transsynaptic NMDA receptor activity
Blocking the kinase BRAF reduces nociceptive transmission in spinal cord after injury.
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Dr. Lucky Tran @luckytran.com · 20/08/2026
AI did not discover a cancer vaccine. Scientists discovered it because their research was supported and funded.
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Anh Hoang Le, PhD 🏳️‍🌈🏴󠁧󠁢󠁳󠁣󠁴󠁿🇻🇳 @anhhle2702.bsky.social · 21/08/2026
Another #FluorescenceFriday. Found this cool macrophage so had to dedicate 5min of my imaging time to capture it. This cell forms a massive ring of podosomes on the substrate. Kinda reminds me of Sauron's eye. They're so versatile. Lamellipodia, filopodia, blebs, you name it. The best cells 🙌!
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Nael Nadif Kasri @naelnadifkasri-lab.bsky.social · 20/08/2026
Happy to share this new study with close and long-time collaborator Tjitske Kleefstra. Using a back translation approach we uncovered a crucial role for astrocytes in Kleefstra Syndrome and how they can explain the positive response of patients to Olanzapine.
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RASopathies Network @rasnet.bsky.social · 20/08/2026
🧪🫀💊 Rigosertib Reverses Hypertrophic Cardiomyopathy in Noonan Syndrome | Circulation Preclinical fly and mouse data and comparison with MEKi trametinib. Exciting findings.... www.ahajournals.org/doi/10.1161/...
ahajournals.org
Rigosertib Reverses Hypertrophic Cardiomyopathy in Noonan Syndrome | Circulation
BACKGROUND: RASopathies constitute a group of rare genetic disorders caused by mutations in genes along the canonical RAS/mitogen-activated protein kinase (MAPK) signaling pathway, affecting cell grow...
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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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