Seeing patients today at the hospital’s brand spanking new building!

Out now: Drs. Beverly Davidson and Jeff Chamberlain discuss gene therapy for inherited brain diseases and Duchenne muscular dystrophy on the #MolecularTherapyPodcast: dlvr.it/TM2Mnm

Science featured my journey to cure Wolfram in 2021. AMX0035 trial is ongoing, gene-editing research is advancing, and care guidelines are in progress. We're nearing a tipping point. Thank you. I’ll keep running. science.org/content/articl…

Very upset to hear of the passing of Tom Lehrer at the age of 97. I sang and performed this song at my high schools talent show when I was 15. All the teachers stood there aghast, then everyone laughed like hell. An absolute genius and one of my favourite satirists ever.

how it started vs how it's going

POV: Your teacher is a cat lover

Data from the second human treated with a prime edited medicine: a 56-year-old male with chronic granulotamous disease (CGD) had his bone marrow prime edited to insert the missing GT in NCF1, restoring NADPH oxidase function in neutrophils (DHR positivity) several fold beyond the

After 4 total submissions (2 triages, 1 scored but not funded, and this final resubmission), a Letter of Request for DCs > 500k, a canceled Council, and issue w foreign sub-site, I am relieved and happy to receive the NOA for my second R01! Let’s go! #perseverance #palindrome

Earlier this year, a 17-year-old high school student named Hannah Cairo solved a 40-year-old mystery about how waves behave, surprising and exciting mathematicians. Kevin Hartnett reports: quantamagazine.org/at-17-hannah-c…

I can see why op restricted replies to the post. Why not take a step further and delete the article entirely? Expansion of brain death criteria to increase cadaveric organ supply generates “perverse incentive” for systems (OneLegacy, my favorite 🙄) to mark patients as dead

I have my chemistry professor to thank for introducing this to me in 1992. RIP Tom Lehrer.

More than a little nightmarish

Mixed FDA signals call its commitment to rare diseases into question: commentary from a frustrated rare disease mother biocentury.com/article/656809…

What a beginning to #ICIEM2025 in Kyoto! Time for some serious sciencing

Loved the calligraphy workshop at #ICIEM2025 thanks to Koyama sensei. Kokorozaki, or “志” Means determination and resolve, and describes the way I approach care and research for patients with lysosomal disorders.

Not only fantastic science at ICIEM 2025 in Kyoto, but an opportunity to meet up with friends.

🎧 New #Researchroundup! Raymond Wang (CHOC) joins Silvia & Rodrigo to dive into the latest in LSDs: 🔬 Base editing in Pompe 🧬 In vivo gene editing 🩸 Gaucher fibrosis score 🧪 Lipid dysregulation across LSDs 💉 Anakinra in Sanfilippo open.spotify.com/episode/5cTNzr… #RareDisease

A baby with CPS1 deficiency, a world-first use of in vivo gene editing, and the emotional, ethical, and scientific questions that follow. Listen to the latest podcast, with Kiran Musunuru, Rebecca Ahrens-Nicklas, & Julien Baruteau. open.spotify.com/episode/3m2rOI… #CRISPR #raredisease