A man in a blue "Deranged Activist" standing next to a tree outside.
Heading off to set up for the
@standupforscience.bsky.social
rally in Pittsburgh.
1:00 Allegheny Landing
Come on out Yinzers.
NATIONAL DAY of ACTION VIRTUAL ONLINE SATURDAY, MARCH 7TH, 12:00PM - 3:00PM
We're hosting a virtual rally for those who are not able to attend a March 7th National Day of Action event in person. We don't think structural barriers should prevent anyone from being able to participate in a movement that directly impacts their lives.
(1/2π§΅)
Servier is buying Day One Biopharmaceuticals for $2.5B, gaining its rare cancer portfolio including the marketed brain tumor drug Ojemda.
π§ π§ͺRetrospective characterization of #Noonansyndrome cohort (male predominant) (N=24). "Consistent associations between NS and low-grade brain tumors, including multifocal involvement and co-occurrence of germline PTPN11 and somatic FGFR1 abnormalities"
#pedsky #medsky #oncosky
rdcu.be/e7gPj
Oh no. She spoke at one of our symposium as she was working on MAP4K in fish. So sorry to hear this. Rare disease is unforgiving.
Timeline cleanse:
Baby tapir getting scritches for their itches.
If you want to scritch your very own tapir & you live outside of Central or South America or SE Asia, you'll need to visit a zoo.
But these little guys are (evolutionarily) from around here, in North America. Let's talk about it.
FDA is sending mixed messages. Rolling out 'plausible mechanism' guidance, touting rare disease innovation hub, advancing AI drug development, encouraging rare disease patient engagement... but then π which robs hope and stifles interest and investment.
? stability or disruption ? π€·ββοΈ
NIH Office of Extramural Research announcements of feedback sessions for NIH-wide strategic plan for March 16 and April 8.
IMPORTANT---IMPORTANT---IMPORTANT
NIH is seeking input for the NIH-wide Strategic Plan. Open to everyone but Registration is Required!
Your chance to listen and get your 2 or more cents in.
grants.nih.gov/news-events/...
Engage with the leading experts in the treatment and care of #congenitaldisorders and #rarepediatricdiseases. Learn more: https://monkeylink.co/8508c3
βIn summary, excising RNA vaccine research from the NIH research portfolio is antithetical to current goals of making America healthy.β
Grateful to join the great @akelvinlab.bsky.social on why we need to document the impact of MAHA funding cuts to understand the grave consequences that will follow
Bone π¦΄
Another case showing positive efffect of MEK inhibitor use
#medsky #pedsky
pubmed.ncbi.nlm.nih.gov/41746735/
Check out this new article on #PPIs in #EoE from CHOP physician-scientist Melanie Ruffner and her lab.
pubmed.ncbi.nlm.nih.gov/41760554/
ooo which ones?
Right on @pearljam.com !
Thanks for highlighting #rarediseaseday
EB and so many more communities depend on advocates to raise awareness and support for their conditions.
Living with rare disease is not inevitable, rapid diagnosis, better treatments and potential cures are out there β£οΈ
#RDD
On #RareDiseaseDay, we honor the families and researchers advancing congenital disorder research. With 67% of Kids First data devoted to these conditions, shared data drives discovery.
#KidsFirstDRC #RareDiseaseResearch
On #RareDiseaseDay, weβre highlighting the work of Gerton Lab β studying the genetic roots of rare disorders including Cornelia de Lange Syndrome and Roberts Syndrome.
Discover how fundamental chromosome #biology research is advancing understanding of rare disease: bit.ly/46m55L6
On this Rare Disease Day 2026 my wish is that our govt would fund medical research π©Ίπ not slow walk appropriated funds.
Stop spending π° on regime change π£ and detainment facilities π
Fix healthcare π₯ and remove barriers to treatment π§
Whoβs with me?!
Keep up the advocacy and vote for better. π³οΈ
As an organization that advocates for awareness & research on #rarediseases, we celebrate this special day - Rare Disease Day - to highlight how common it is to have a rare disease ππ» 1 in 10 π€
You probably know someone OR are someone living with 1 of ~10k of them
For me itβs #Noonansyndrome
π¦ Rare Disease Day: Rare Diseases Donβt Exist in Isolation
Individually rare. Collectively affecting millions.
Follow along as we spotlight how rare disease connects to key healthcare awareness areas recognized this month.
www.rarediseaseadvisor.com
#RareDiseaseDay #RareDisease
Ugh...this makes me so sad and angry
As I sit here listening to the NIH/NCATS Rare Disease Day #RDDNIH presentations from advocates and patients talking about how we need the NIH and partnerships to advance research and lifesaving treatments
"Turning progress into cures" -JJ
@laurenctesta.bsky.social Saw your talk just now. You're so inspiring. And thanks for highlighting the complex emotions of being a patient-scientist.
I look forward to following your next chapter.
#raredisease #rddnih #rasopathies #hope #precisionmedicine
The FDA released long-awaited draft guidance detailing its new βplausible mechanismβ pathway, outlining how individualized gene and RNA therapies for rare diseases could reach market with limited patient data.
Blood vessel development and lumenization in a zebrafish embryo. Credit to Dr. Kazuhide Shaun Okuda @latrobeuni.bsky.social. #ZebrafishZunday π§ͺ
Image description: Banner for Rare Disease Day on 28th of February, 2026. There is the symbol for Rare Disease Day in the top left corner. Text says "300 million people worldwide live with a rare disease. Source: Estimating cumulative point prevalence of rare disease: analysis of Orphanet database; European Journal of Human Genetics (2019)" along with the official website: www.rarediseaseday.org
We will be observing #RareDiseaseDay on 28th of Feb by highlighting some of the research by the Undiagnosed Diseases Network (UDN), which aims to solve the most challenging medical mysteries using advanced technologies & model organisms to understand disease pathogenesis & help patients. Stay tuned!
For those on the job market, University of Toronto π¨π¦ is hiring a tenure-track Assistant Professor in Zebrafish Models of Genetic and Metabolic Pathologies π Yes, they want #zebrafish!
π jobs.utoronto.ca/job/Toronto-...
π«π¦΄π§ Learn more at GARD, the Genetic and Rare Disease information center...
rarediseases.info.nih.gov/diseases/109...
Approved reports are displayed to the public, once personal details are removed. This enables the community to contribute to a public database that may help identify new treatment options. cure.ncats.io/home
The more experiences we collect, the more valuable this resource becomes.
FDA and NIH Center for Translational Science developed a platform to capture user experience with repurposed medicines. Share your treatment experience, explore what others have tried
πCURE-ID rare disease drug repurposing survey for RASopathiesπ§ͺ
Developed by FDA and NIH, CURE ID is a free platform where patients, caregivers, and clinicians can report their experiences using existing drugs (LIKE MEK INHIBITORS)Β in new ways to treat rare diseases.
Wow.
