RASopathies Network

Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome–Associated Obstructive Hypertrophic Cardiomyopathy:

🧪 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/...

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...

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:

Less than one week to get your applications in! #DisabledInSTEM

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.

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/

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...

#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/

Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders
www.mdpi.com/3375352

More on #RASopathies and lymphatic anomalies. Several cases reported.
link.springer.com/article/10.1...

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?

#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 <ARAF> 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. 🧪

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.

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

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...

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

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/us-news/2025...

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...

“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🧪

🚨🚨 INFANT FORMULA RECALL 🚨🚨

Please share widely

👇

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...

christmas ornament

vegpires

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

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

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...

🧪 #oncosky #medsky #pedsky Therapeutic radiation drives leptomeningeal dissemination of medulloblastoma through an innate immune process: Developmental Cell www.cell.com/developmenta...

🐸 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

😱

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

This is figure 4, which shows protein–protein network analysis reveals protein networks involved in pwMS.

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 🧪

Happy Halloween and #FluorescenceFriday 👻🔬

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

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

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

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...

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...

🧵👇

#cardiosky
ASDs are a possible congenital anomaly in #RASopathies