In a landmark scientific feat published in NEJM, a CHOP & Penn Medicine team treated the first patient with personalized #genetherapy, designed uniquely for newborn KJ, who was diagnosed with a rare #ureacycledisorder at birth. Learn more: http://ms.spr.ly/63327Sw92F

🍔 He ate a burger. Within hours, he was fighting for his life. The reason? A genetic disorder that turns protein into poison.

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#MetabolicDisorder #UreaCycleDisorder #Hyperammonemia #RareDiseases #GeneticDisorders

Check out our 2024 Year in Review for all our efforts to advance research, improve care and raise awareness that saves lives 76cc07341.flowpaper.com/YearinReview...

#UreaCycleDisorder #UCD #RareDiseases #PatientSupport #MedicalResearch

Rare but treatable 💊🧠 Targeted therapies emerge for #UreaCycleDisorder as awareness & diagnosis improve.
#RareDisease #MetabolicDisorder #GeneticHealth

www.marketresearchfuture.com/reports/urea...

We’re proud to share that PNRI postdoc Shradha Suyal, PhD has received the 2025 Cynthia Le Mons Fellowship from @nucdf.bsky.social! Her #research in the Dudley Lab @aimeedudley.bsky.social is uncovering how genetic changes cause a rare #ureacycledisorder. Thank you NUCDF! 💙Read more: bit.ly/4mC9qQf