@lisaschoyer.bsky.social
The Stones’ article reminds/informs us all how Costello syndrome (CS) can help round out what we know about the RASopathies!
#pedsky #medsky
Meet Helaina, 💃 ballroom dancer!
issuu.com/raritylife/d...
#Costello syndrome is a #RASopathy with mutations in the #HRAS gene. Probably only 1000-1500 people worldwide w/ this rare condition. For support & info go to costellokids.com
Meet Helaina, 💃 ballroom dancer!
issuu.com/raritylife/d...
#Costello syndrome is a #RASopathy with mutations in the #HRAS gene. Probably only 1000-1500 people worldwide w/ this rare condition. For support & info go to costellokids.com
Rarity Life Issue 12
Rarity Life is an online publication that offers those affected by rare disease, disability and cancer the opportunity to create content that is truly inclusive, to unify our collective experience and
issuu.com
May 9, 2025 at 10:13 PM
The Stones’ article reminds/informs us all how Costello syndrome (CS) can help round out what we know about the RASopathies!
Reposted
RASNet would like to thank our generous industry sponsors for supporting this scientific symposium.
Sessions on #GIsky 🤢 #lymphatic #cardiosky 🫀 #neurosky 🧠 #genetics 🧬 #cancer 🩺 #therapeutics 💊
Sessions on #GIsky 🤢 #lymphatic #cardiosky 🫀 #neurosky 🧠 #genetics 🧬 #cancer 🩺 #therapeutics 💊
April 29, 2025 at 3:48 PM
RASNet would like to thank our generous industry sponsors for supporting this scientific symposium.
Sessions on #GIsky 🤢 #lymphatic #cardiosky 🫀 #neurosky 🧠 #genetics 🧬 #cancer 🩺 #therapeutics 💊
Sessions on #GIsky 🤢 #lymphatic #cardiosky 🫀 #neurosky 🧠 #genetics 🧬 #cancer 🩺 #therapeutics 💊
Reposted
If you study anything related to #RAS signaling or treat people with RAS-associated genetic conditions (Noonan syndrome spectrum disorders), we invite you to attend the 9th International #RASopathies Symposium JULY 25-27, 2025
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
Symposia - The RASopathies Network
rasopathiesnet.org
April 29, 2025 at 3:48 PM
If you study anything related to #RAS signaling or treat people with RAS-associated genetic conditions (Noonan syndrome spectrum disorders), we invite you to attend the 9th International #RASopathies Symposium JULY 25-27, 2025
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
#pedsky #medsky #oncosky #rare
info: rasopathiesnet.org/symposia/
Reposted
Very nice work on HSP90 inhibition in plexiform neurofibromas. We saw HSP90 inhibition working fairly well on cutaneous neurofibromas as well (www.cell.com/cell-reports... ).
Definitely worth exploring this path in the context of neurofibroma to address the existing therapeutic gap
Definitely worth exploring this path in the context of neurofibroma to address the existing therapeutic gap
SNX-2112 inhibits the ERBB3high tumor population in Plexiform Neurofibromas https://www.biorxiv.org/content/10.1101/2025.04.26.650740v1
April 30, 2025 at 3:59 PM
Very nice work on HSP90 inhibition in plexiform neurofibromas. We saw HSP90 inhibition working fairly well on cutaneous neurofibromas as well (www.cell.com/cell-reports... ).
Definitely worth exploring this path in the context of neurofibroma to address the existing therapeutic gap
Definitely worth exploring this path in the context of neurofibroma to address the existing therapeutic gap
Reposted
Bluetorial: Timing of getting grants out the door at NIH
The pauses and low rate of releasing awards may be a problem in terms of getting the NIH appropriation spent by September 30, 2025
The pauses and low rate of releasing awards may be a problem in terms of getting the NIH appropriation spent by September 30, 2025
a cartoon says hey everybody an old man 's talking while bart simpson looks on
ALT: a cartoon says hey everybody an old man 's talking while bart simpson looks on
media.tenor.com
May 2, 2025 at 2:14 PM
Bluetorial: Timing of getting grants out the door at NIH
The pauses and low rate of releasing awards may be a problem in terms of getting the NIH appropriation spent by September 30, 2025
The pauses and low rate of releasing awards may be a problem in terms of getting the NIH appropriation spent by September 30, 2025
Reposted
I was invited to sit on an advisory board for a clinical trial. Thank you @biomarinpharma.bsky.social for embracing the patient voice for treatment of skeletal conditions. Delighted to meet the dedicated BioMarin team & fellow advocates in the #noonansyndrome & #turnersyndrome communities. #pedsky
May 5, 2025 at 4:25 PM
I was invited to sit on an advisory board for a clinical trial. Thank you @biomarinpharma.bsky.social for embracing the patient voice for treatment of skeletal conditions. Delighted to meet the dedicated BioMarin team & fellow advocates in the #noonansyndrome & #turnersyndrome communities. #pedsky
Reposted
A single-dose topical gel using negatively charged liposomes cleared middle ear infections in chinchillas within 24 hours, suggesting a potential alternative to oral antibiotics for pediatric care. doi.org/g9hgbn
Single-dose gel clears ear infections in animal study within 24 hours
Ear infections are a common and painful occurrence in infants and toddlers. Oral antibiotics are often prescribed for a week to treat the condition, but these drugs can trigger side effects that disrupt treatment, which can lead to infection recurrence and antibiotic resistance.
medicalxpress.com
May 5, 2025 at 9:05 PM
Reposted
Heads up 🗣️
9️⃣ more days of EARLYBIRD rates to register for #RASopathies SYMPOSIUM
Don't miss the opportunity to interact with experts and advocates who will discuss physiological systems and treatment advances related to genetic conditions: #CFC #Noonan #Costello #NF1, #NSML, #Mazzanti syndromes
9️⃣ more days of EARLYBIRD rates to register for #RASopathies SYMPOSIUM
Don't miss the opportunity to interact with experts and advocates who will discuss physiological systems and treatment advances related to genetic conditions: #CFC #Noonan #Costello #NF1, #NSML, #Mazzanti syndromes
May 6, 2025 at 5:52 PM
Reposted
Heather Stone worked with us and other advocates to develop a #RASopathies survey on the CURE ID platform to collect patient experiences on use of repurposed medicines.
Thank you Heather!
Thank you Heather!
On the plague of rare diseases, and the people who try to parse the pieces together. The good bureacucrats that existed, a process that is never perfect - a good read for sure
rb.gy/0x01hu
rb.gy/0x01hu
Opinion | The free-living bureaucrat
Michael Lewis on Heather Stone of the Food and Drug Administration.
www.washingtonpost.com
March 16, 2025 at 6:57 PM
Heather Stone worked with us and other advocates to develop a #RASopathies survey on the CURE ID platform to collect patient experiences on use of repurposed medicines.
Thank you Heather!
Thank you Heather!
Reposted
3D reconstruction of a 3-day-old #zebrafish heart beating. Credit to Michael Weber (prev. @mpi-cbg.de). #ZebrafishZunday 🧪
March 16, 2025 at 9:50 AM
3D reconstruction of a 3-day-old #zebrafish heart beating. Credit to Michael Weber (prev. @mpi-cbg.de). #ZebrafishZunday 🧪
Reposted
Detailed charts of fetal hearts
Read this Research Highlight showcasing work from Christopher De Bono, Stéphane Zaffran, Heather Etchevers @etche.bsky.social & colleagues:
journals.biologists.com/dev/article/...
Read this Research Highlight showcasing work from Christopher De Bono, Stéphane Zaffran, Heather Etchevers @etche.bsky.social & colleagues:
journals.biologists.com/dev/article/...
March 18, 2025 at 12:55 PM
Detailed charts of fetal hearts
Read this Research Highlight showcasing work from Christopher De Bono, Stéphane Zaffran, Heather Etchevers @etche.bsky.social & colleagues:
journals.biologists.com/dev/article/...
Read this Research Highlight showcasing work from Christopher De Bono, Stéphane Zaffran, Heather Etchevers @etche.bsky.social & colleagues:
journals.biologists.com/dev/article/...
Reposted
Fantastic cover!
Issue 5 is complete!
On the cover: A 3D reconstruction from a light-sheet fluorescent microscopy image stack depicts parallel networks of vessels (PECAM1+, CD31, magenta) and nerves (PRPH+, yellow) in a human heart at 10.0 post-conceptional weeks. See De Bono et al.
doi.org/10.1242/dev....
On the cover: A 3D reconstruction from a light-sheet fluorescent microscopy image stack depicts parallel networks of vessels (PECAM1+, CD31, magenta) and nerves (PRPH+, yellow) in a human heart at 10.0 post-conceptional weeks. See De Bono et al.
doi.org/10.1242/dev....
March 19, 2025 at 8:13 PM
Fantastic cover!
Reposted
🗣️ Registration is now open for the 9th International #RASopathies Symposium in July.
#RAS #MEK #research
#medsky #pedsky #oncsky #academicsky #cardiosky
#chronicillness #raredisease #geneticsyndromes
🧪🫀🦴💊🧠🦷👁️🩸🧬🩺🩻
#RAS #MEK #research
#medsky #pedsky #oncsky #academicsky #cardiosky
#chronicillness #raredisease #geneticsyndromes
🧪🫀🦴💊🧠🦷👁️🩸🧬🩺🩻
March 19, 2025 at 10:21 PM
🗣️ Registration is now open for the 9th International #RASopathies Symposium in July.
#RAS #MEK #research
#medsky #pedsky #oncsky #academicsky #cardiosky
#chronicillness #raredisease #geneticsyndromes
🧪🫀🦴💊🧠🦷👁️🩸🧬🩺🩻
#RAS #MEK #research
#medsky #pedsky #oncsky #academicsky #cardiosky
#chronicillness #raredisease #geneticsyndromes
🧪🫀🦴💊🧠🦷👁️🩸🧬🩺🩻
Reposted
More #scicom
A pie graph worth keeping in mind as the NIH budget plummets jamanetwork.com/journals/jam... for 356 new FDA drugs approved
March 23, 2025 at 7:00 PM
More #scicom
Reposted
Ras-MAPK pathway in patients with lupus nephritis lupus.bmj.com/content/12/1...
This pathway and mutations keep turning up when sequencing is done in various conditions 🧬🧪
This pathway and mutations keep turning up when sequencing is done in various conditions 🧬🧪
Ras-MAPK pathway in patients with lupus nephritis
Background Pathogenic mutations in genes encoding components of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway cause RASopathy. Here, we describe five unrelated patients with SLE carrying...
lupus.bmj.com
March 23, 2025 at 9:20 PM
Ras-MAPK pathway in patients with lupus nephritis lupus.bmj.com/content/12/1...
This pathway and mutations keep turning up when sequencing is done in various conditions 🧬🧪
This pathway and mutations keep turning up when sequencing is done in various conditions 🧬🧪
Reposted
"When a complex system is far from equilibrium, small islands of coherence in a sea of chaos have the capacity to shift the entire system to a higher order."
Iya Prigogine, Noble prize-winning chemist
Iya Prigogine, Noble prize-winning chemist
March 23, 2025 at 4:39 PM
"When a complex system is far from equilibrium, small islands of coherence in a sea of chaos have the capacity to shift the entire system to a higher order."
Iya Prigogine, Noble prize-winning chemist
Iya Prigogine, Noble prize-winning chemist
Reposted
🧵Yesterday, I received notice that my #NIH grant, on the social environment, lifecourse, epigenetics & #birthoutcomes in Black families, was terminated. This grant represented a critical effort to address the ⬆️ rates of maternal & infant mortality in the US, particularly among Black mothers & babies
March 22, 2025 at 7:11 PM
🧵Yesterday, I received notice that my #NIH grant, on the social environment, lifecourse, epigenetics & #birthoutcomes in Black families, was terminated. This grant represented a critical effort to address the ⬆️ rates of maternal & infant mortality in the US, particularly among Black mothers & babies
Reposted
My friend from graduate school found out that funding for her NF1 project got pulled. From $25 mil to 0 with a stroke of a pen. NF1=Neurofibromatosis Type 1, an inherited genetic disorder. Both of us are early career scientists. 🧪🔬🧬 #Science #AcademicSky
www.wired.com/story/the-ch...
www.wired.com/story/the-ch...
My friend from graduate school found out that funding for her NF1 project got pulled. From $25 mil to 0 with a stroke of a pen. NF1=Neurofibromatosis Type 1, an inherited genetic disorder. Both of us are early career scientists. 🧪🔬🧬 #Science #AcademicSky
www.wired.com/story/the-ch...
My friend from graduate school found out that funding for her NF1 project got pulled. From $25 mil to 0 with a stroke of a pen. NF1=Neurofibromatosis Type 1, an inherited genetic disorder. Both of us are early career scientists. 🧪🔬🧬 #Science #AcademicSky
www.wired.com/story/the-ch...
bsky.app
March 24, 2025 at 2:57 PM
My friend from graduate school found out that funding for her NF1 project got pulled. From $25 mil to 0 with a stroke of a pen. NF1=Neurofibromatosis Type 1, an inherited genetic disorder. Both of us are early career scientists. 🧪🔬🧬 #Science #AcademicSky
www.wired.com/story/the-ch...
www.wired.com/story/the-ch...
Reposted
Omg 😱. This is *awful*. I was expecting to push hard on submission to CDMRP funding opps for our cancer research this year, and it looks like cancer opps are gone. $1.5B total funding, slashed by 57% www.statnews.com/2025/03/24/t...
March 26, 2025 at 2:53 PM
Omg 😱. This is *awful*. I was expecting to push hard on submission to CDMRP funding opps for our cancer research this year, and it looks like cancer opps are gone. $1.5B total funding, slashed by 57% www.statnews.com/2025/03/24/t...
Reposted
Reposting this for #ACC25
Pls “REPOST” if you like to share a post with others
#CardioSky
@anastasiasmihaili.bsky.social @drmarthagulati.bsky.social @cathlabedu.bsky.social @thornsberryjd.bsky.social @saraersozlu.bsky.social @vietheartpa.bsky.social @drmonalidesai.bsky.social
Pls “REPOST” if you like to share a post with others
#CardioSky
@anastasiasmihaili.bsky.social @drmarthagulati.bsky.social @cathlabedu.bsky.social @thornsberryjd.bsky.social @saraersozlu.bsky.social @vietheartpa.bsky.social @drmonalidesai.bsky.social
March 28, 2025 at 1:08 PM
Reposting this for #ACC25
Pls “REPOST” if you like to share a post with others
#CardioSky
@anastasiasmihaili.bsky.social @drmarthagulati.bsky.social @cathlabedu.bsky.social @thornsberryjd.bsky.social @saraersozlu.bsky.social @vietheartpa.bsky.social @drmonalidesai.bsky.social
Pls “REPOST” if you like to share a post with others
#CardioSky
@anastasiasmihaili.bsky.social @drmarthagulati.bsky.social @cathlabedu.bsky.social @thornsberryjd.bsky.social @saraersozlu.bsky.social @vietheartpa.bsky.social @drmonalidesai.bsky.social
Reposted
Novel therapeutic strategies in #Noonan Syndrome and #RASopathies.
from a recent review by Thomas Edouard
doi.org/10.1007/s004...
Can we get #MEK inhibitors over the finish line?
from a recent review by Thomas Edouard
doi.org/10.1007/s004...
Can we get #MEK inhibitors over the finish line?
November 26, 2024 at 8:13 PM
Novel therapeutic strategies in #Noonan Syndrome and #RASopathies.
from a recent review by Thomas Edouard
doi.org/10.1007/s004...
Can we get #MEK inhibitors over the finish line?
from a recent review by Thomas Edouard
doi.org/10.1007/s004...
Can we get #MEK inhibitors over the finish line?
Reposted
Out Now! This seminal text, edited by Dr. Katherine A. Rauen, is the most extensive & current description of the state of the field and breadth of knowledge of congenital RASopathies syndromes / conditions. 🦴🫀🧠🧬🩸🩺🧪
#Medsky #scisky #RAS #MAPK #raredisease #RASopathies
doi.org/10.1007/978-...
#Medsky #scisky #RAS #MAPK #raredisease #RASopathies
doi.org/10.1007/978-...
The RASopathies
This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes.
doi.org
December 5, 2024 at 2:51 PM
Out Now! This seminal text, edited by Dr. Katherine A. Rauen, is the most extensive & current description of the state of the field and breadth of knowledge of congenital RASopathies syndromes / conditions. 🦴🫀🧠🧬🩸🩺🧪
#Medsky #scisky #RAS #MAPK #raredisease #RASopathies
doi.org/10.1007/978-...
#Medsky #scisky #RAS #MAPK #raredisease #RASopathies
doi.org/10.1007/978-...