8-year-old Maxwell, with a disease so rare it didn’t even have a name, just became the first to receive a breakthrough gene therapy thanks to relentless research and breakthrough gene therapy. Hope in action. 💙 #raredisease #epilepsy #gentics Full story: https://bit.ly/4oRXtWV

Spotlight: Jeff Hardin highlights recent work from @xsciteng.bsky.social et al. of the @jeffbush.bsky.social lab (rupress.org/jcb/article/...), studying the function of p120-catenin and #cadherin-mediated #adhesion in upper lip fusion in mammalian embryos. rupress.org/jcb/article/... #Development

The estimated prevalence of #Epilepsy is substantially higher among individuals with neurofibromatosis type 1 (#NF1) compared to the general population, with reported rates ranging from 4% to 14% (vs 1% to 2%) depending on the age of onset. Learn more: https://bit.ly/44xAbyz #RareDisease #MedSky

Glad you pointed this out. Seizures are concern for other RASopathies too, notably cardiofaciocutaneous (CFC) syndrome w/ mutations in BRAF, KRAS, MEK1 & MEK2. Treatment can be difficult because the go-to medications for epilepsy are often contraindicated for CFC patients with comorbid heart conds.

🧪🧬 BLOG: LZTR variants are linked to autosomal dominant & recessive forms of #Noonansyndrome #RASopathy LZTR’s role in regulating RAS signaling via degradation points to disease mechanism & therapeutic possibilities. #Medsky #oncosky #pedsky #RAS frederick.cancer.gov/news/exploit...

Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1 - Nature

🧪🫁 Haven't heard too much about pulmonary hypertension in #Noonan syndrome before. Here is a report from one center. pubmed.ncbi.nlm.nih.gov/41381222/

Our colleagues in RDCat (Rare Disease Research Catalyst Consortium) are a group of Irish-based healthcare professionals, researchers, advocacy groups and people living with rare diseases. They are seeking a new team member! www.ucd.ie/workatucd... Job Ref: 019222, Closing 2/1/26

🧪 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/...

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

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/

#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/

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. 🧪

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

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

“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...

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...

🐸 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

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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

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 👻🔬

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

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

🧪 #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

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

#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. 🧪

🧪 #medsky Interesting report of clinical 'misdiagnosis', indeed several syndromes look like #noonansyndrome 🧬Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome - Kim - AJMGPart A onlinelibrary.wiley.com/doi/10.1002/...

🧪The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features - Rautiainen - American Journal of Medical Genetics Part A - Wiley Online Library onlinelibrary.wiley.com/doi/10.1002/...

Why does he have to ruin ev-rything?

More on RASopathies and hearts 🫀 16% of pediatric hypertrophic cardiomyopathy cases were due to RASopathy in this cohort. #cardiosky #pedsky 🧪 rdcu.be/eL36v

🦴💪 Join us - the Skeletal Conditions Advocacy Coalition - and Life Sciences Pennsylvania - for an event at the PA capitol with the #raredisease caucus and #disability advocates. OCT 28, 2025 tinyurl.com/y5vjxmkv

Multidisciplinary Treatment of Patients With Noonan Syndrome Consensus on the diagnosis of NS, patient transition from pediatric to adult care, follow-up, and treatment of short stature with recombinant human growth hormone (rhGH). jamanetwork.com/journals/jam... #medsky #pedsky #noonan 🧪💪🦴

Listen up, Pennsylvanians, we have a very important judicial retention election this year. Make sure your voice counts! Check your registration status. Register to vote if you’re not yet registered. And make sure you turn out and get your friends to turn out! 🗳️

#NoKings Rochester NY

🦴💪 Join us - the Skeletal Conditions Advocacy Coalition - and Life Sciences Pennsylvania - for an event at the PA capitol with the #raredisease caucus and #disability advocates. OCT 28, 2025 tinyurl.com/y5vjxmkv

One prevalent diagnostic symptom of #Noonansyndrome is congenital pulmonary valve stenosis. Work from the Gelb lab advances an iPSC platform for studying valve development and function. #cardiosky 🫀 🧪 #raredisease #rasopathies

A high-fidelity protocol for #hiPSC-derived Fibrosa vs Spongiosa #ValvularIntersistialCell Endocardial state +FGF2/BMP4/TGFB2➡️ Fibrosa subset: PRRX2 TIMP3 ITGA2 (most discriminative marker) Endocardial state +FGF2➡️ Spongiosa subset: LUM APOE bioRxiv 2025 www.biorxiv.org/content/10.1...

One prevalent diagnostic symptom of #Noonansyndrome is congenital pulmonary valve stenosis. Work from the Gelb lab advances an iPSC platform for studying valve development and function. #cardiosky 🫀 🧪 #raredisease #rasopathies