“The N in N-linked glycosylation, the most common type of protein glycosylation, also stands for asparagine. What if NARS1 is actually more accurately described pathophysiologically as a type of Congenital Disorder of Glycosylation”

Collective bodies of biointelligence are forming 🧬 Latest from the ecosystem 👇 💛 VitaDAO 💛 funding TransFidelity to fight Alzheimer's 💰 $BIO rewards for biotech DAOs & biohackers 🍄 PsyDAO Psychedelic science platform 🧠 Cerebrum DAO 🧠 bridging $NEURON to Base + more! 🧵

Buy meme coins, laugh for a day. Buy IPTs, fix science forever. For too long, outdated funding systems have slowed scientific progress. Crypto can fix science, but we need your help. Meet Catalyst, the #DeSci funding machine that lets YOU decide the future of science. 🧵👇

Web3, biotech, and AI are shaping up to be the powerful technologies of the decade. We imagined a tool at the intersection. Introducing Catalyst: a science funding machine that enables human progress to accelerate at the speed of intelligence, human or artificial. Here's how ⤵️

🚨 New podcast Friday 🚨 🎙 Heterozygous DHDDS Variants with Irena Muffels and Eva Morava. Listen on Apple 👉 podcasts.apple.com/gb/podcast/het… Spotify: open.spotify.com/episode/6E32b8… Soundcloud: soundcloud.com/user-109006120… Perlara Cure DHDDS FCDGC World CDG Organization

Dr Irena Muffels and Prof Morava discuss insights into heterozygous DHDDS variants that appear to impact on multiple different metabolic pathways. Professor Morava also highlights the work of Perlara, a company working to develop CDG treatments.

The 🐰is out of the 👒. Marabou starts its first funding campaign on 9 Sep. You and we fund the quest to find cures for two rare genetic diseases with Ethan Perlstein bio/acc and his lab Perlara . See the project: marabou.pro/perlara/

Why Marabou funds rare genetic disease research with Perlara and Ethan Perlstein bio/acc ? Listen to Marabou founders talk about the fantastic project: youtu.be/YlO8IBQDMBY

Looking for a superhero! We fund research on rare genetic diseases to save many kids' lives. We are looking for a human doing Google Ads who wants to help us for the next 6 weeks. For this period, there is no salary, just glory. Afterwards we can see... DM me!

Marabou soon starts its first funding campaign. Here is the podcast with Ethan Perlstein bio/acc about his fantastic project Perlara to research rare genetic diseases: youtube.com/watch?v=j7JU61…

CureSPG50 has revolutionized parents led clinical trials in the rare disease community. Perlara is helping over 20 families with small molecules repurposing . All parents led

They might be giants - kids with rare diseases. But they need us. Join us in our campaign to fund #desci research with Perlara . Link in comments.

The whole field of rare diseases is pushed forward by parents like Ashley Rowland, co-founder of CureARS foundation ✊ Link to the full interview in the first comment 👇

Thank you, Congress, for including a short-term extension of the Rare Pediatric Priority Review Voucher Program in the Continuing Resolution, funding the government until Dec. 20th. Kids are counting on Congress to pass a long-term solution before the deadline. To learn more

We have a HUGE announcement! We are thrilled and honored to announce that we are joining the Rare as One Network as the new recipients of the CZI grant!!! chanzuckerberg.com/science/progra… #leighsyndrome #mitochondrialdisease

Every day Congress delays renewing the #PRV is another day parents worry about finding a cure for their children. Tell your Senator to ACT NOW! Take Action: bit.ly/3Zx3EXr #Cures4RareKids, #CureKrabbe, #CreatingHopeReauthorizationAct

Fuel It Still Boosting levels of the metabolic fuel NAD+ rescues DHDDS deficiency in a yeast avatar. 3 pioneer N-of-1 studies are now underway. Rosie's N-of-1 is yielding results after 12 weeks of NMN treatment. perlara.substack.com/p/fuel-it-still

ACCELERATE, ANON The second cohort of biotech DAOs is cooking! Announcing our first early admissions into the BIO Incubator: 🧪 Long COVID Labs (@LongCOVIDLabs) 🧪 Quantum Bio DAO (Quantum Biology DAO) 🧪 Curetopia (Curetopia) Time to bio/acc 🧵👇

Curetopia: Ending 10,000+ rare diseases 🧬 Curetopia partners with patients & patient families to accelerate cures in the $1T+ rare disease space Led by YC alum & biotech entrepreneur Ethan Perlstein bio/acc, who brought a drug to Phase 3 trial w/ just $5M (vs. typical $100M+ costs)

I believe drug repurposing will work — not a cure but life-changing — for 95% of rare diseases. 3 recent examples from the Perlara pipeline: • anidulafungin for MEPAN • NMN for DHDDS • riluzole for FAM177A1 It’s all here for the world to see: cureodysseys.com