A baby with CPS1 deficiency, a world-first use of in vivo gene editing, and the emotional, ethical, and scientific questions that follow.
In the latest Podcast, Kiran Musunuru, Rebecca Ahrens-Nicklas, and Julien Baruteau discuss.
open.spotify.com/episode/3m2r...
Have you become an official member of NUCDF yet? Your annual membership directly helps us fulfill our mission of supporting those with UCDs and continuing research/education with the ultimate goal of a cure for UCDs. Become a member: nucdf.org/about/donate...
Excited to announce the 6th International Symposium on UCD Sept 2, 2025 | Kyoto, Japan (satellite to ICIEM)
Trainee abstract submissions encouraged — registration fee and travel awards available for select poster presenters. ucdc.rarediseasesnetwork.org/index.php/6t...
The project is funded through the Eugene Washington PCORI Engagement Award Program, an initiative or PCORI, the Patient-Centered Outcomes Research Institute. Read the press release: www.eurekalert.org/news-release...
We are pleased to announce that we are launching a two-year project to establish the NUCDF Partner Network and develop a roadmap for future research in urea cycle disorders #UCDs #PatientEngagement #OTC #CPS1 #ASA #ASS1
nucdf.org/partner-netw...
Clinicians, it’s not too late! Sign up now for the next session in our ECHO series, “Urea Cycle Disorder ECHO: The Essentials,” scheduled for Tuesday, July 1, 5-6:30 pm ET.
A registration link and the prior session recording are all available here: nucdf.org/echo
Living with rare diseases like urea cycle disorders can be isolating. Finding a community can make all the difference.
Join Jill Drury as she shares inspiring stories of patients/caregivers finding hope through the National Urea Cycle Disorders Foundation.
rarerevolutionmagazine.com/cure-the-cycle
We are thrilled to hear about the promising gene editing treatment of a baby with CPS1 deficiency, a urea cycle disorder. Thank you to the Muldoon family for leading the way! It is fantastic to see that such treatments are now possible www.nytimes.com/2025/05/15/h...
When we stand united, our Urea Cycle Disorders community speaks with a powerful voice — one that raises awareness, drives research, and fuels hope for a cure.
We’ve already come so far, but there’s still so much more to do, and your support is what powers progress.
Join us: nucdf.org/about/donate/
We are partnering with Project Echo to host a new educational series for clinicians, Urea Cycle Disorders: The Essentials. Be sure to share this information with your colleagues so that they have an opportunity to attend!
Find details and a registration link here: nucdf.org/about-ucd/ec...
We’re revamping our membership opportunities! Now is your chance to be an official member of the National Urea Cycle Disorders Foundation.
You can join us and help our mission.
Find more information – and join – here: nucdf.org/donate/annua...
#nucdf #ureacycledisorders #rarediseases
Twenty-five years ago, there was just one medication option available. Today, we are pleased to see various choices for families, recognizing that a personalized approach is essential in meeting diverse needs.
More info here: nucdf.org/resources/uc...
Twenty-five-year-old Maia Romero was born a healthy baby, but when she was 5 or 6 years old, Maia was diagnosed with ASA.
Read more:
nucdf.org/resources/ma...
🌟 A Journey Through Time: Celebrating Our History 🌟
💙 Join us over the next several weeks as we journey back through our organization's history to share with you the important milestones throughout the years. 💙
Let's start with the early years ⬇️
April is Urea Cycle Disorders Awareness Month! We will share important information about UCDs all month long and raise awareness about these disorders. Will you help?
We have been working to advance research, improve care & raise awareness that saves lives for people affected by urea cycle disorders #UCDs since 1988. Check out our many milestones: nucdf.org/our-history....
We will continue to share the importance of this unseen threat.
Delayed diagnosis of hyperammonemia can lead to neurological damage or death.
CHECK AMMONIA
#checkammonia #neurologicaldamage #hyperammonemia #nucdf #metabolicdisorders #geneticdisorders #ureacycledisorders #UCDs
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
From day-to-day medical management to the latest research findings, our 2024 conference was packed with actionable information for people affected by urea cycle disorders and for healthcare providers. Check out the recordings: nucdf.org/news-and-eve...
#NUCDF #UCDs #research #familysupport
Did you know?
There are 6,000+ identified rare diseases.
Help us celebrate #rarediseaseday and raise awareness for the 300 million people worldwide living with a rare disease, their families and carers.
#RareDiseaseDay #NUCDF #UCDs #metabolicdisorders #ureacycledisorders
Be part of Rare Disease Week on Capitol Hill! Join virtually to learn about #raredisease policy priorities:
✅ "Rare Reels" documentaries highlighting powerful stories
✅ Legislative Conference (Tues 9-5 EST)
✅ Rare Disease Congressional Caucus Briefing (Wed 9-10 EST)
Watch at shorturl.at/NLcxO
Did you know?: 70% of genetic rare diseases start in childhood.
#rarediseaseday #raredisease #rarediseases #facts #nucdf
In honor of #RareDiseaseDay on Feb 28, @pnrigenetics.bsky.social is hosting a scientific symposium with Seattle Children's Research Institute + participants from University of Washington to celebrate the network of researchers, clinicians, and patient advocates in Seattle
pnri.org/rarediseased...
Amy Magyar's son Mitchell was born with a urea cycle disorder. She sat down for an interview as a part of our caregiver support initiative. Here she shares her family's story: www.youtube.com/watch?v=HxmD...
#caregiver #caregiversupport #caregiverlife #ureacycle #ureacycledisorders
We are proud to share our involvement in a new paper from the National Organization for Rare Disorders (NORD®) outlining policy principles and recommendations to fortify public trust in the U.S. newborn screening system. Learn more: rarediseases.org/newborn-scre...
October may officially be Check Ammonia Month, but we will continue to share this important information throughout the year in hopes that it can save even one life.
Know the signs and symptoms of hyperammonemia. This knowledge could literally save lives.
#checkammonia #hyperammonemia #highammonia
🔬 Why Research Matters for UCDs 🔬
Research is the key to finding better treatments and ultimately a cure for UCDs. Thanks to our supporters, we fund groundbreaking research into new therapies, diagnostics, and patient support systems.
👉 Want to help? Donate today!
nucdf.org/donate/donat...
Female carriers of #OTC (heterozygous females) face both symptoms and health risks at higher levels than previously thought. They should be monitored to reduce risks and possibly treated to address symptoms that may have gone unrecognized. Read more: nucdf.org/research-new...
The siblings of individuals with UCDs can face significant emotional, psychological, and social challenges. We've developed a number of resources to help - check them out here: nucdf.org/resources/si...
#RareDisease #Siblings #UCDs
We are excited to share our end-of-year review! Check out all we've done, from family conferences to fundraisers, new support resources to scientific conferences and so much more. Thanks to all who helped make 2024 a success!
76cc07341.flowpaper.com/YearinReview...
#UCDs #Raredisease