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...

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

What are UCDs? Urea cycle disorders are eight related disorders caused by genetic mutations that lead to deficiencies in enzymes crucial to removing ammonia, a toxic byproduct of protein metabolism, from the bloodstream. Learn more: nucdf.org/about-ucd/wh...

NUCDF dollars at work: Grant funds equipment purchase for research into genetic diagnosis of urea cycle disorders @aimeedudley.bsky.social @pnrigenetics.bsky.social nucdf.org/research-new...

📢Job Alert!📢 Expand your horizons and make a difference in #RareDisease, join the Rare Disease Catalyst Consortium (RDCat)! Work with academic hospital site leads and incoming fellow as well as the RDCat project team co-led at TCD! 🗓️ Apply by 15 Jan www.tcd.ie/hr/vacancies/

Happy holidays from our families to yours! #UreaCycleDisorders #RareDisease #UCDs

As the potential of gene therapy becomes a possibility in more and more diseases we need robust natural history data and an understanding of other markers, such as neuroimaging, to fully assess the impact of interventions. https://doi.org/10.1002/jimd.12828

More 2024 research news: female #OTC carriers face both symptoms & 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. #UCD #raredisease #x-linked nucdf.org/research-new...

Many late-onset UCD patients present with psychiatric symptoms at emergency rooms or doctor's offices. Give a listen to this recent @jimd-editors.bsky.social podcast to explore psychiatric presentations of inherited metabolic diseases: soundcloud.com/user-1090061...

Zoey was a beautiful, spirited 19 year old with a bright future who lost her life suddenly at age 19 from an undiagnosed urea cycle disorder, OTC deficiency. A simple, inexpensive blood ammonia test could have saved Zoey's life. #UCD #CheckAmmonia www.youtube.com/watch?v=J5bv...

Our research partner, the Urea Cycle Disorders Consortium #UCDC, has been funded by the #NIH Rare Diseases Clinical Research Consortium #RDCRN for 20 years. Learn more about their 16 clinical sites, research studies underway, and more here: ucdc.rarediseasesnetwork.org #Raredisease #UCDs

Resharing one of our most important stories in 2024: Aimée Dudley @aimeedudley.bsky.social & her team @pnrigenetics.bsky.social are using yeast genetics to help us better understand the impact of variants of uncertain significance #VUS related to urea cycle disorders #UCDs bit.ly/nucdf-yeast-...

New research examines risks, outcomes of seizure activity in patients hospitalized with high ammonia. Key takeaway: early consultation with a neurology team and neuromonitoring can improve outcomes. bit.ly/nucdf-seizur... #UCDs #seizures #hyperammonemia

An ammonia test can save a life. Here are the key procedures to follow for an accurate result: checkammonia.com #UCDs #CheckAmmonia #hyperammonemia #IEMs #raredisease

High ammonia can strike at any age and lead to neurological damage or death, but testing for #hyperammonemia can save a life. Know the symptoms and remember to #CheckAmmonia checkammonia.com #UCDs #RareDisease #InbornErrorsOfMetabolism

Clear management guidelines exist for the care of Urea Cycle Disorders but that doesn't always mean treatments are readily available or reimbursed. In this new publication, Stolwijk et al explore the challenges in accessibility of these treatments. https://doi.org/10.1002/jimd.12815

What are urea cycle disorders? Patients with these rare genetic disorders can't metabolize protein properly. If patients are left untreated, toxic ammonia can build up and cause coma, brain damage, death, and long-term disability. Learn more about #UCDs: nucdf.org/about-ucd/wh...

New research examines risks, outcomes of seizure activity in patients hospitalized with high ammonia bit.ly/nucdf-seizur... #RareDisease #UCDs #hyperammonemia @stjuderesearch.bsky.social @childrensnational.bsky.social

This Thanksgiving, we are grateful for our 20-year research partnership with the Urea Cycle Disorders Consortium, which has brought hope to patients and families affected by urea cycle disorders. We can't wait to see what the next 20 years of research will bring! #UCDs #UCDC #RDCRN #NIH

A blood ammonia test is essential to uncover elevated ammonia levels (hyperammonemia), the classic sign of a urea cycle disorder. Resources on recognizing and testing for hyperammonemia are featured on our campaign website, checkammonia.com. Please check it out. #UCDs #CheckAmmonia

Thrilled to be joining Bluesky! Follow us for news from the National Urea Cycle Disorders Foundation, a nonprofit supporting patients and families affected by urea cycle disorders. We work to advance research, improve care & raise awareness that saves lives. #NUCDF #UCDs #RareDisease #CheckAmmonia