#rasopathies
LightNews LightNews
toptags.bsky.social
🌟 BlueSky trending hashtags (1h):

#booksky #art #gamedev #pedsky #birds #indiedev #photography #raredisease #noonansyndrome #neurosky #mapk #ras #rasopathies #furry #medsky
November 29, 2025 at 4:00 PM
toptags.bsky.social
🔥 BlueSky trending hashtags (30m):

#booksky #art #birds #pedsky #gamedev #photography #noonansyndrome #neurosky #mapk #ras #rasopathies #raredisease #indiedev #furry #medsky
November 29, 2025 at 4:00 PM
toptags.bsky.social
🚀 BlueSky trending hashtags (15m):

#booksky #art #pedsky #gamedev #noonansyndrome #neurosky #mapk #ras #rasopathies #birds #raredisease #indiedev #photography #furry #furryart
November 29, 2025 at 4:00 PM
toptags.bsky.social
🚀 BlueSky trending hashtags (15m):

#booksky #art #birds #gamedev #furry #photography #raredisease #furryart #mapk #neurosky #ras #rasopathies #noonansyndrome #pixelart #pedsky
November 29, 2025 at 3:45 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
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
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 · 19d
#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
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
rasnet.bsky.social
#cardiosky
ASDs are a possible congenital anomaly in #RASopathies
jama.com JAMA @jama.com · Oct 27
Among patients undergoing transcatheter atrial septal defect closure, a bioresorbable occluder was noninferior to a metallic occluder for 6-month and 2-year closure success and device safety.

ja.ma/47oopHo
JAMA study: Bioresorbable occluders are noninferior to metallic devices for ASD closure. Population: 156 female, 73 male, median age 14.1 years. Findings: Bioresorbable occluder 96.5%, Metallic occluder 97.4% success at 6 months.
October 27, 2025 at 12:45 PM
rasnet.bsky.social
More on RASopathies and hearts 🫀
16% of pediatric hypertrophic cardiomyopathy cases were due to RASopathy in this cohort. #cardiosky #pedsky 🧪
rdcu.be/eL36v
Graphical Abstract: Clinical Characteristics and Etiology-Specific Outcomes in Pediatric Hypertrophic Cardiomyopathy
October 21, 2025 at 9:01 PM
rasnet.bsky.social
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
haoyin.bsky.social Hao Yin @haoyin.bsky.social · Oct 16
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...
October 16, 2025 at 11:35 PM
jaacapjournals.bsky.social
#Noonansyndromes #RASopathies #ExecutiveFunctioning #SocialFunctioning
4/4
October 15, 2025 at 8:55 PM
skcardprecisionmed.bsky.social
Cardiac Precision Medicine in the 21st Century
🧬 Session 5: Precision Therapies on the Horizon

Feat:
Dr. Ronald Cohn – Gene Therapy
Dr. Gregor Andelfinger –Targeted Therapy for Rasopathies
Dr. Joseph Rossano – Cardiomyopathy Therapies

cardiacprecisionmedicine.com
September 23, 2025 at 1:30 PM
medrxivpreprint.bsky.social
T1w/T2w ratio suggests reduced intracortical myelin content in youth with RASopathies https://www.medrxiv.org/content/10.1101/2025.09.16.25335916v1
September 18, 2025 at 5:14 PM
rasnet.bsky.social
Always love a great open access review 👍
Targeting pathological ERK1/2 signaling in cancer and beyond: Trends in Molecular Medicine www.cell.com/trends/molec...
#RASopathies #RAS #MEK #Medsky #Oncosky #Pedsky
🧪
Targeting pathological ERK1/2 signaling in cancer and beyond
Dysregulation of the RAF–MEK–ERK1/2 pathway is involved in the pathoetiology of many diseases. Its central role in cancer has led to the development of drugs targeting upstream receptors, RAS, and kin...
www.cell.com
September 16, 2025 at 12:03 AM
littlebunker.com
SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR–IRX transcription factor signaling axis

https://littlebunker.com/2025/09/03/research_papers-shp2-genetic-variants-in-nsml-c1595a05/
September 3, 2025 at 9:35 PM
rasnet.bsky.social
🧪 Nice mechanistic work to id pathways affected by #RASopathies variants in PTPN11 / SHP2 phosphatase from the @antonbennett.bsky.social lab
doi.org/10.1073/pnas...
SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR–IRX transcription factor signaling axis | PNAS
Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder caused by mutations in PTPN11 (protein tyrosine phosphatase n...
doi.org
August 30, 2025 at 2:05 PM
cnuevotapioles.bsky.social
I am honored to have received an Early Stage Investigator award and the opportunity to present my work on mitochondrial biology in Costello Syndrome at the 9th International RASopathies Symposium. I am grateful for the chance to discuss science and life’s challenges with everyone at this meeting.
rasnet.bsky.social RASopathies Network @rasnet.bsky.social · Aug 19
The 9th International #RASopathies Symposium brought together a really fantastic group of participants & attendees. Inspiring to see the new generation coming up.
PRIORITY1️⃣Repositioning therapeutics developed for RAS-ERK signaling in oncology for the mosaic & syndromic RASopathy conditions 🙏
🧪
a group of students and postdocs receiving award certificates for their highly significant poster abstract submissions on the opening night of the RASopathies conference in 2025 A graphic describing the Ninth International RASopathies Symposium post-symposium number of attendees, sponsors, advocacy partners, etc.
August 22, 2025 at 7:11 PM
rasnet.bsky.social
Heartfelt thank-you to all of the sponsors who contributed to making this a highly successful and informative meeting.
Graphic with logos of sponsors who supported the 9th International Rasopathies Symposium in 2025
August 19, 2025 at 7:17 PM
rasnet.bsky.social
The 9th International #RASopathies Symposium brought together a really fantastic group of participants & attendees. Inspiring to see the new generation coming up.
PRIORITY1️⃣Repositioning therapeutics developed for RAS-ERK signaling in oncology for the mosaic & syndromic RASopathy conditions 🙏
🧪
a group of students and postdocs receiving award certificates for their highly significant poster abstract submissions on the opening night of the RASopathies conference in 2025 A graphic describing the Ninth International RASopathies Symposium post-symposium number of attendees, sponsors, advocacy partners, etc.
August 19, 2025 at 7:17 PM
rasnet.bsky.social
🧪 Downstream branches of receptor tyrosine kinase signaling act interdependently to shape the face-Hanne-2025-Dev Dyn anatomypubs.onlinelibrary.wiley.com/doi/10.1002/...
Inhibitors >> mild truncation of growth. Craniofacial development is robust.
What effect does mild activation have? #RASopathies
Downstream branches of receptor tyrosine kinase signaling act interdependently to shape the face
Inhibiting three downstream effectors of receptor tyrosine kinase (RTK) signaling (MEK1/2, PLCγ, and PI3K) in the frontonasal process of chicken embryos caused similar mild truncation of growth. Com...
anatomypubs.onlinelibrary.wiley.com
August 15, 2025 at 3:07 PM
nfbot.bsky.social
Increased Prevalence of Psychiatric Disorders in Children with RASopathies: Comparing NF1, Noonan Syndrome Spectrum Disorder, and the General Population
Increased Prevalence of Psychiatric Disorders in Children with RASopathies: Comparing NF1, Noonan Syndrome Spectrum Disorder, and the General Population
Increased Prevalence of Psychiatric Disorders in Children with RASopathies: Comparing NF1, Noonan Syndrome Spectrum Disorder, and the General Population
pubmed.ncbi.nlm.nih.gov
July 29, 2025 at 10:57 AM
rasnet.bsky.social
We're ready to go! Hoping for good weather for all the travelers.

Can't make it in person -- attend virtually.

🧪 #medsky #cardiosky #oncosky #academicsky #neurosky
#Rasopathies #ras #kras #mek #raredisease #research #treatments #noonansyndrome #cfcsyndrome #nf1 #costellosyndrome
July 19, 2025 at 3:43 PM
rasnet.bsky.social
RAS isn't just a cancer gene! Learn more about conditions linked to altered #RAS #MEK #MAPK signaling? The "RASopathies" are among the largest group of systemic congenital disorders. See how variants in RAS pathway components affect human development & biology. 🧪
#cansky #oncosky #pedsky #devsky
July 1, 2025 at 4:39 PM
nfbot.bsky.social
RASopathies. Part II: Cutaneous and extracutaneous manifestations
RASopathies. Part II: Cutaneous and extracutaneous manifestations
RASopathies. Part II: Cutaneous and extracutaneous manifestations
pubmed.ncbi.nlm.nih.gov
June 19, 2025 at 4:57 AM