RASopathies Network

Catch up on Development presents… webinar on gut development - the Node Our September webinar featured three early-career researchers working on gut development. Here, we share the talks from Surojit Sural (Columbia University) and Swarnabh Bhattacharya (Dana-Farber Cance...

Catch up on Development presents… webinar on gut development

Check out the talks of Surojit Sural @surojitsural.bsky.social & Swarnabh Bhattacharya @iamzico.bsky.social

Also, register for our upcoming #DevPres on 15 October: us02web.zoom.us/webinar/regi...

thenode.biologists.com/catch-up-on-...

"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

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.

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.

didn’t know she was raised by lions in the burgh 😺

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.

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 🧪

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 🧠🧬🔬🧪

Not sure if there are any #raredisease folks on the sky but if there are...
A funding opportunity-
grants.nih.gov/grants/guide...
Oh, but the government is shut down.
🤦‍♀️🧪

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

The Company of Biologists 100 logo to the left and QR code to the right. Portrait of Mark Peifer to the left, text to the right 100 extraordinary biologists Mark Peifer Mark Peifer is a recent Company Director and a prolific author, having published in Development, Journal of Cell Science and Biology Open. Mark is a cell and developmental biologist at the University of North Carolina, USA, investigating the epithelial tissues that form the basic architectural unit of our bodies and of those of other animals. #100biologists #biologists100

Our next extraordinary biologist is Mark Peifer, recent @biologists.bsky.social Director and a prolific author, having published in @dev-journal.bsky.social, @jcellsci.bsky.social and @biologyopen.bsky.social. #100biologists
@peiferlabunc.bsky.social

Long run cases of vaccine-preventable diseases in the United States Reported cases of diphtheria, measles, mumps, pertussis, polio and rubella.

more graphs! (cases by year, linear scale)
ourworldindata.org/grapher/case...

Measles cases in the United States An interactive visualization from Our World in Data.

and follow over time, it is clear that introduction of vaccine caused cases and deaths to plummet within the next few years. This is a nice graph (cases on log scale) and source: ourworldindata.org/grapher/numb.... >>

Thank you. The video was misleading and disheartening. Went to look at actual data to understand what he was presenting. 2 things to note when assessing evidence- cases vs. deaths, and the axes on the graphs. yes, measles cases and deaths were declining b4 vaccine, but if you zoom in to the graphs>

Does he ever reply to you?

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. 🧪

🧪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...

🧪 incredible breakthrough regarding Huntington’s disease!!!

Promising preclinical therapy exploits ALK protein to selectively destroy tumors while sparing healthy cells Researchers at Children's Hospital of Philadelphia (CHOP) unveiled a novel antibody-drug conjugate (ADC) that shows striking efficacy against cancers that express the anaplastic lymphoma kinase (ALK) protein on the cancer cell surface.

A new antibody-drug conjugate targeting ALK protein demonstrates complete tumor elimination in preclinical models, offering a potential precision therapy for both pediatric and adult cancers. doi.org/g93vk3

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...

🧪 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...

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...

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
🧪

The New England Journal of Medicine Aficamten or Metoprolol for Obstructive Hypertrophic Cardiomyopathy A Research Summary based on Garcia-Pavia P et al. | 10.1056/NEJMoa2504654 | Published on August 30, 2025 Visual representations of the patients in the trial and the treatments they were assigned. Read the full Research Summary at NEJM.org.

In symptomatic obstructive hypertrophic cardiomyopathy, aficamten improved oxygen uptake and heart function and decreased symptoms more than metoprolol, with a similar incidence of adverse events. Full MAPLE-HCM phase 3 trial results and Research Summary: nej.md/45zDWo3

#MedSky #CardioSky

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...

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
🧪

California’s $23 Billion Plan to Restore Federal Cuts to Scientific Research

California is devising a plan to create their own National Institutes of Health to counter federal cuts to science research.

Structural basis for LZTR1 recognition of RAS GTPases for degradation The RAS family of small guanosine triphosphatases (GTPases) are tightly regulated signaling molecules that are further modulated by ubiquitination and proteolysis. Leucine Zipper-like Transcription Re...

🧪Nice structural work from @Castel @Simanshu groups to understand #RAS GTPase family degradation & consequences of human variants in LZTR-related #Noonansyndrome #RASopathy #raredisease
💠Structural basis for LZTR1 recognition of RAS GTPases for degradation | Science www.science.org/doi/10.1126/...

Revolution’s lead RAS blocker heads into Phase 3 in frontline pancreatic cancer after early data Revolution Medicines to start Phase 3 trials of daraxonrasib for pancreatic cancer after promising Phase 1 data with gemcitabine nab-paclitaxel combo and as monotherapy

news about RAS targeted assets
#oncosky #medsky #cancer #RAS
e.endpointsnews.com/t/t-l-gdtiiu...

Congratulations to Dirk Görlich and Steven L. McKnight, 2025 #LaskerAward winners! - “for discoveries that exposed the structures and functions of low-complexity domains within protein sequences” 🧪
@mpi-nat.bsky.social
#Lasker2025 #LaskerLaureate #structuralbiology #phaseseparation

Congratulations to Michael J. Welsh, Jesús (Tito) González, and Paul A. Negulescu, 2025 #LaskerAward winners! – “for their key roles in developing a novel treatment for #cysticfibrosis” 🧪
#Lasker2025 #LaskerLaureate

Sourdough by Robin Sloan

😥🥹

Lymphatic endothelial mTORC1 instructs metabolic and developmental signaling during lymphangiogenesis Han et al. discovered that mTORC1 plays a role in lymphatic capillary growth and collecting lymphatic vessel differentiation. Mechanistically, mTORC1 maintains PROX1 levels and promotes Myc expression...

Lymphatic endothelial mTORC1 instructs metabolic and developmental signaling during lymphangiogenesis: Developmental Cell www.cell.com/developmenta...

A Pill to Heal the Brain Could Revolutionize Neuroscience

This is a lovely article that showcases some of the outstanding work that my UCLA colleagues Tom Carmichael and Alcino Silva and their trainees have done over the past few years seeking to leverage intrinsic repair pathways. www.nytimes.com/2025/09/04/s...