RASopathies Network

Graphic of CHD facts: 1% of newborns are born with a congenital heart defect (CHD) every year 15-20% of CHDs are related to genetic conditions. A baby’s risk of having a CHD is at least three times more likely if their parents have a CHD. More than 2.4 million US children and adults are living with a CHD. About 1 in 4 babies with a CHD have a critical CHD. Infants with critical CHDs generally need surgery or other procedures in their first year of life. CHD treatment helps kids live into adulthood.

Yesterday marked the start of congenital heart disease week. #CHD affects 1 in 100 births. 25% of babies will require surgery or intervention to save their lives. Learn more about defects & how you can help at: www.heart.org/en/health-to... 🧪

is this time lapse or real time?

🫀🦴🧠 Learn more at GARD, the Genetic and Rare Disease information center...
rarediseases.info.nih.gov/diseases/109...

February is Noonan Syndrome Awareness Month. Noonan syndrome is named for Dr. Jacqueline Noonan, a cardiologist who first recognized and published a paper with nine individuals who had cardiac anomalies, short stature, chest deformities, and pulmonary valve stenosis. More info from Noonan Syndrome Foundation at www.teamnoonan.org

February is #Noonansyndrome awareness month AND the month when we recognize #RareDisease Day (Feb 28). We advocate for research and therapeutic progress 💊 for conditions caused by #RAS#MAPK signaling dysfunction. BTW, its not so rare. NS is ~1:2000 people!
🧪🩺🧬 #pedsky #medsky #cardiosky

Incidence and severity of SARS-CoV-2 infection and vaccine BNT162 side effects in children and adolescents with Noonan Syndrome: a national multicentric study

🧪🩺🧬🦠 No statistically significant differences were found in the severity or duration of COVID-19 between NS patients and controls. No statistically significant differences in side effects from the BNT162 vaccine were observed between groups. #Medsky #IDsky #noonan pubmed.ncbi.nlm.nih.gov/41602885/

So excited to see this. Investment in small molecule drugs targeting #Noonansyndrome #RASopathy #RAS #MAPK signaling.
By far the most common gene mutated in #Noonan syndrome is PTPN11 encoding SHP2 protein tyrosine phosphatase. Congrats to Think Biosci.
🧪💊🧬🩺

So excited to see this. Investment in small molecule drugs targeting #Noonansyndrome #RASopathy #RAS #MAPK signaling.
By far the most common gene mutated in #Noonan syndrome is PTPN11 encoding SHP2 protein tyrosine phosphatase. Congrats to Think Biosci.
🧪💊🧬🩺

Flowchart titled "Management of Restless Legs Syndrome" with steps including initial management, obtaining serum ferritin levels, and first-line therapies such as iron supplementation or gabapentinoids, depending on symptom frequency and ferritin levels.

Restless legs syndrome (RLS), a sleep-related movement disorder, is present in approximately 3% of adults worldwide.

📌 This Review summarizes the pathophysiology, epidemiology, risk factors, diagnosis, treatment, and prognosis of #RestlessLegsSyndrome.

ja.ma/4sRqJjM

Treatment of a teenager with an ultrarare condition is a medical milestone

www.economist.com/science-and-...

developing frameworks for delivery of N of 1 treatments
#raredisease #ultrarare #ASOs #pedsky #medsky 🧬🩺🧪
www.economist.com/science-and-...

Committee Releases Conferenced Defense, Homeland Security, Labor, Health and Human Services, Education, and Related Agencies, and Transportation, Housing and Urban Development, and Related Agencies Bi... United States Senate Committee on Appropriations

The conference (agreement between House and Senate) appropriations bill that includes HHS and NIH was released this morning.

www.appropriations.senate.gov/news/majorit...

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Clarification-
“MYF is bad” is confusing …..don’t we want MYF?
The argument is over whether to fund a multi-year project all at once (MYF) or one year at a time, as has been general practice.
MYF (lump sum) effectively reduces total $ available for new projects each year, w/ devastat. consequenc

For those interested!

a close up of a brown surface with a few spots ALT: a close up of a brown surface with a few spots

The appropriations bill that includes NIH is being finalized.

The Senate bill includes a bipartisan amendment from Senators Capito (WV) and Baldwin (WI) limiting multi-year funding of grants.

The House version does not and OMB has issued a veto threat if the House includes such language.

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Multidisciplinary Treatment of Patients With Noonan Syndrome This consensus statement develops recommendations for diagnosis, treatment, and follow-up from childhood through adulthood for patients with Noonan Syndrome.

Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus Statement
OCT 2025
🧪🩺🧬#medsky #pedsky #noonansyndrome
jamanetwork.com/journals/jam...

cool! always wanted tension sensors to look at tissue closure processes

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen-activated protein kinases (RAS/MAPK) pathway. Histor...

🧪🩺
Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature - Madenidou - AJMG Part A onlinelibrary.wiley.com/doi/10.1002/...
#medsky

New insights in regulation of RAS isoforms revealed by protein structures Leucine zipper-like post translational regulator 1 (LZTR1) functions as a RAS degrader, but the molecular basis of LZTR1-RAS regulation has remained unclear. A recent report by Dharmaiah et al. presen...

structural biology
human genetics
precision medicine
🧪 #medsky#RAS
New insights in regulation of RAS isoforms revealed by protein structures: Trends in Biochemical Sciences www.cell.com/trends/bioch...

Headline: similar structures will be found in other organisms
#amazing or #tl;dr
?

👍 This work (phenotypes linked to smooth musc impairment) could provide a comparison for other conditions (like RASopathies) where individuals often have multiple feeding and GI issues (dysmotility v. common) of unknown etiology. Unclear how symptoms map to epithelia, muscle, or nervous system. 🧪

#DYK👇🏻

Scientific research is flowing and flourishing on Bluesky. (Plants flag) I claim this land for #Science 🧪🩺🔬📡

Right on ! CNBC Cures.
We advocate for a group of #raredisease conditions related to #syngap. the #RASopathies. syngap is a #RAS gap linking it to several other neurodevelopmental syndromes 🧠🧪🧬
🙏 TY for highlighting rare disease stats and stories on your platform

Promotional graphic for the “Connect CACNA1C Global Network Conference.” Navy and orange design with the headline “Bringing together the global CACNA1C community.” Text explains the conference unites researchers and families to share discoveries, insights and hope in CACNA1C research. Calls to action read “Register your interest in attending” and “Abstract submissions open now,” with the abstract deadline of 16 February 2026 and a website link to timothysyndrome.org/conference. Event details show 22–23 July 2026, Cardiff, UK, as an in-person event with online attendance available. A message invites people living with a CACNA1C variant, parents or carers, researchers, clinicians and advocates to attend. Includes network and DNA icons and the Timothy Syndrome Alliance (TSA) CACNA1C logo.

ABSTRACT SUBMISSION OPEN! #CACNA1C

Join us at the Connect CACNA1C Global Network Conference! 🧬22nd-23rd July 2026 in Cardiff, UK

Click here for registration/abstract submission:

🔗 timothysyndrome.org/conference/

#TimothySyndrome #channelopathies #genomics

Not sure it takes 4 hours. create de novo or upload, then edit.
linking ORCID seems glitchy, do first to set up your profile.
yes you can delegate, been working w/faculty.
one suggestion was try Incognito mode in chrome.
wait after you hit save, edit, delete, it is crunching even if you can't tell

Rare doesn’t mean alone. #KidsFirstDRC is connected by compassion, strengthened by science.
Learn more: https://monkeylink.co/d2a835
#TheRareWeShare #CongenitalDisorderAwareness

An email to NINDS staff from Walter Koroshetz announcing that his reappointment request has been denied.

More news (not good) from NIH

The renewal request from National Institute of Neurological Diseases and Stroke Director Walter Koroshetz has been denied.

I guess the NIH_leadership™ needed another position to fill with their time-tested recruitment process.

A beautiful Christmas Eve morning in #pittsburgh today with buildings downtown lit up red and green for the holidays. Sunrise was incredible as well from the West End Overlook, capping off what was a great start to the day.

8-Year-Old Has Disease So Rare It Doesn't Have a Name. Now He's First in the World to Receive Treatment (Exclusive) Amber Freed tells PEOPLE how she worked for years to find a treatment for her son Maxwell's SLC6A1 diagnosis, and finally got the treatment administered in September, making history in the process.

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