RASopathies Network

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?...

We're sharing today's full, hour-long #NORDSummit conversation with the CEOs of NORD, BioMarin, Jazz Pharmaceuticals, and Otsuka North America, moderated by #CNBCCures host Becky Quick, so everyone can hear their urgent insights about the next decade of #RareDisease: www.youtube.com/watch?v=UDf3...

Are you studying 14-3-3 proteins? 👇Nice paper: cohort of patients with YWHAZ variants. Takehome msg - different variants ➡️distinct clinical conditions. One allele in particular is linked to cardiofaciocutaneous (CFC) syndrome by disrupting assoc w/ & activating RAF pubmed.ncbi.nlm.nih.gov/42914981/

Let's remember Sophie. And help children with Angelman syndrome lives their best lives 🤩

A milestone for the #RASopathies community!! #pedsky #cardiosky

💊🫀ANNOUNCING: Mount Sinai to lead national trial of targeted therapy for infants with noonan syndrome and severe hypertrophic cardiomyopathy | EurekAlert! www.eurekalert.org/news-release...

Check this great new publication from Dr. Kelly Harris in Pediatric Cardiology, focusing on communication needs between clinicians and parents following prenatal diagnoses of CHD: www.pediatrics.pitt.edu/news/harris-... @news.upmc.com @scottmaurermd.bsky.social

Mark Cuban wants to crack open the market for rare disease treatments www.statnews.com/2026/10/21/m... via @statnews.com

Do we have any followers with #Noonan syndrome, related #RASopathies, or doctors who see these patients? We are sharing a new international research survey to gather experience with musculoskeletal pain 💪😖 #medsky #pedsky rasopathiesnet.org/participants...

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.

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.

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...

Yes, Thanks for asking. There are numerous clinical case studies. Here are a few related to Noonan syndrome. www.mdpi.com/1422-0067/26...

October is Dysautonomia Awareness Month. ⁠ ⁠ Dysautonomia, also called autonomic dysfunction, is a group of disorders that affect the autonomic nervous system.⁠ ⁠

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

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

Happy to see this.

Anybody who would decide to close this museum does not have Philadelphia’s best interests at heart.

Read: "RAS Pathway Activation and Microenvironmental Adaptation as Hallmarks of Myeloid Sarcoma" from this month's issue of Blood Cancer Discovery. buff.ly/O9S6B09

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

🧪💊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...

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

🧪💊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...

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.

🧪🧠🫀🩺 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

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...

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...

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

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

“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 👇🧪

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

“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...

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...

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: https://bit.ly/4zM7xYv

BRAF recruitment to spinal sensory synapses promotes neuropathic pain by potentiating transsynaptic NMDA receptor activity | Science Signaling www.science.org/doi/10.1126/...

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: https://dub.sh/menetrier You may be rare, but you're not alone! #rareDisease #rareDiseaseAwareness

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...

from the Corning Museum, a feathery cube? -zoom in- #glass #imaging #microscopy

BRAF recruitment to spinal sensory synapses promotes neuropathic pain by potentiating transsynaptic NMDA receptor activity | Science Signaling www.science.org/doi/10.1126/...

AI did not discover a cancer vaccine. Scientists discovered it because their research was supported and funded.

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 🙌!

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.

🧪🫀💊 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/...