rarediseaseapps retweeted
We're offering grants of up to $50,000 in Claude usage credits to researchers accelerating cures for rare diseases.
This is our first focused call within AI for Science, our program supporting scientists using Claude to speed up discovery. anthropic.com/news/rare-dise…
May 25th is Huntington Awareness Day 💙
I’ve added early HTT gene support to Gene Exon Editor, with a slider
to explore CAG repeat changes visually.
Try the WIP version:
exoneditor.com?gene=htt
Feedback welcome.
#LetsTalkAboutHD #HuntingtonsDisease
Happy World DNA Day! 🧬
Decoding DNA ➡️ mRNA ➡️ Protein shouldn't be a mystery. I built DNAGCat to help #RareDisease families learn the science of genetics through play! 🐈
Empower your journey and play today:👉 DNAGCat.com
#WorldDNADay #Genetics #STEM #BioTech #DNA
rarediseaseapps retweeted
What if AI could invent enzymes that nature hasn’t seen? 👩🔬🧑🔬
Introducing 🪩 DISCO: Diffusion for Sequence-structure CO-design
14 rounds of directed evolution and over a year of wet lab work. That's what it took to engineer an enzyme for selective C(sp³)–H insertion, one of the most challenging transformations in organic chemistry.
DISCO surpasses this with a single plate. No pre-specified catalytic residues, no template, no theozyme, no inverse folding, just joint diffusion over protein sequence and structure.
📝 Blog: disco-design.github.io/
📄 Paper: arxiv.org/abs/2604.05181
💻 Code: github.com/DISCO-design/DISC…
This is another WIP - Rare Disease Planet - allow families to place their location on the map, and also add in current medical trials they are on for their particular rare disease ( Huntingtons, DMD etc ), and get a global view of potential treatment in other parts of the world.
Here’s a sneak keep at one of a new WIP app, allowing families to become more familiar with chromosomes and genes ( where their gene is located, where other genes for things like eye colour are located - what other genes are located on the chromosome etc )
rarediseaseapps retweeted
AN IMPORTANT RARE PLATFORM ANNOUNCEMENT - A FREE NEW SUITE of APPs for anyone rare or caring for rare check out the story of how it came about open.substack.com/pub/anthon… @GeneticAll_UK @rarediseaseapps @rarediseaseday @NoInvisibles @RareRevolutionM @ITPSupportAssoc #RareDiseaseDay
It’s Rare Disease Day 2026. 💜
I’m a rare disease dad building FREE web apps to support families, patients & advocates.
No paywalls. Just tools that help.
Explore & share 👉 RareDiseaseApps.com
#RareDiseaseDay #MakeRareVisible #RareDisease
Two sneak peeks at switching between multiple related genes, live now for testing but not unlocked yet in public UI
SGCA/B/D/G
exoneditor.com?gene=sgca%2Cs…
OCA1/2/3/4
exoneditor.com?gene=oca1%2Co…
#raredisease #RareDiseaseDay #exon
Some rare diseases have multiple associated genes - latest development build allows you to pick multiple genes and easily switch between them using tabs ( in this case, SGCA/B/D/G )
Navigating a rare disease? You're not alone. 💙 Just 1 week until #RareDiseaseDay! We've launched Rare Disease Apps—100% FREE tools to map & compare your medical journey. You stay in total control of your data.
Watch below! 👇 rarediseaseapps.com
Adding in group label support to the Exon Editor, as part of supporting other genes
@Lovable @lovableshipped @rarediseaseday @RareDiseases
Check out other free rare disease apps in development at…
rarediseaseapps.com
💜 2 weeks to @RareDiseaseDay (Feb 28).
As a parent, a hard part of a rare diagnosis is feeling alone.
I built Shared Footsteps so families can map & compare medical timelines.
rarediseaseapps.com
Opt in/out anytime. GDPR/Privacy first.
Please try it. Invite others. 💜








