RASopathies Network
@rasnet.bsky.social
340 followers 580 following 190 posts
Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease by Stronach in Pittsburgh
Posts Media Videos Starter Packs
🦴💪 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
Reposted by RASopathies Network
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...
Reposted by RASopathies Network
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
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...
Reposted by RASopathies Network
The Rare Advocacy Spotlight is live...

Learn more about it below and read the first article here about the @mda.org : https://bit.ly/3KVUheF

#RareDisease #RareAdvocacySpotlight
This is concerning for people who have medical reasons for needing supplemental nutrition.
my latest investigation for @consumerreports.org is based on months of reporting and 60+ lab tests of leading protein supplements

we found that most protein powders and shakes have more lead in one serving than our experts say is safe to have in a day (🧵)

www.consumerreports.org/lead/protein...
Protein Powders and Shakes Contain High Levels of Lead - Consumer Reports
CR tests of 23 popular protein powders and shakes found that most contain high levels of lead.
www.consumerreports.org
Hmmm
This was Senator McCormick’s feather in the cap.
#pittsburgh
The Department of Energy has listed the Philadelphia and Pittsburgh area hydrogen hubs as projects targeted for termination. Together, they could lose $1.7 billion dollars in federal funding.
Trump administration could pull funding for Philadelphia, Pittsburgh hydrogen hubs
The Philly region’s MACH2 hydrogen hub promises to produce hydrogen fuel using renewable sources. The ARCH2, based in western Pennsylvania, would use fossil fuels.
buff.ly
Reposted by RASopathies Network
BREAKING: Masked Border Patrol agents aggressively arrested WGN video producer Debbie Brockman in Lincoln Square Friday morning, supposedly for "obstructing justice." (Video via Josh Thomas on Facebook)

Follow @heartlandsignal for more.
Reposted by RASopathies Network
Sometimes, poor perfusion is attributed to a Venule🤓

Age-related rarefaction of capillary meshwork converging into principal cortical venules, most pronounced in layer 6/CC➡️
Gliosis+demyelination in 🐭 #WhiteMatterAging

#SciArt
@andyshihlab.bsky.social #NatNeuro 2025
www.nature.com/articles/s41...
Reposted by RASopathies Network
🧪accompanying news release on potential of dasatinib to treat cardiac hypertrophy caused by SHP2 mutations in NS and NSML
#cardiosky #pedsky #medsky

medicine.yale.edu/news-article...
Reposted by RASopathies Network
Wow this could potentially be useful for the #RASopathy #NF1 community who experience not only hypertrophic neuropathy but Schwann cell dysfunction and cancer. Markers for resident and infiltrating cells. 🧪
Reposted by RASopathies Network
"The work I was involved in had no obvious therapeutic benefit. It was purely of scientific interest. I hope the country will continue to support basic research even though it may have no obvious practical value."
- John Gurdon
Very saddened to hear of John Gurdon’s passing. I’ve been lucky enough to interact with him at multiple points through my career - from undergrad lectures, through his position as former Chair of @biologists.bsky.social’s Board of Directors, and as an author at @dev-journal.bsky.social.
Nobel Laureate Professor Sir John Gurdon dies aged 92
It is with great sadness that the University shares the news of the death of Professor Sir John Gurdon, founder of the Gurdon Institute.
www.cam.ac.uk
Reposted by RASopathies Network
Just incredible findings, and a beautifully written paper: www.nature.com/articles/s41... Get your shingrix vaccine! You do not want peripheral neuropathy, and as a bonus you get substantial protection from later development of dementia.
Varicella-zoster virus reactivation and the risk of dementia - Nature Medicine
Large-scale longitudinal health records reveal consistent association of varicella-zoster virus reactivation with dementia.
www.nature.com
didn’t know she was raised by lions in the burgh 😺
Reposted by RASopathies Network
This year’s Nobel Prize in Physiology or Medicine has been awarded to Mary Brunkow, Fred Ramsdell, and Shimon Sakaguchi for discovering a class of immune cells that help to prevent the body from attacking its own tissues. #medsky 🧪
Medicine Nobel goes to scientists who revealed secrets of immune system ‘regulation’
Mary Brunkow, Fred Ramsdell and Shimon Sakaguchi discovered cells that protect the body from autoimmune diseases.
go.nature.com
Reposted by RASopathies Network
Attention, Attention, Early career investigators in Neuroscience: this is a great funding opportunity and a terrific community of scientists to join: deadline for application is February 25, 2026 🧠🧬🔬🧪
Reposted by RASopathies Network
CHARGE syndrome is a rare genetic disorder involving congenital malformations and sensory deficits across multiple organ systems, often linked to CHD7 gene mutations.

Learn more: www.chargesyndrome.org

You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
Reposted by RASopathies Network