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Reposted by National Urea Cycle Disorders Foundation

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/11/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 21/07/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 26/06/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 18/06/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 06/06/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 03/06/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 15/05/2025

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...

nytimes.com

Baby Is Healed With World’s First Personalized Gene-Editing Treatment

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 22/04/2025

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/

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 16/04/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 07/04/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 06/04/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 04/04/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 02/04/2025

🌟 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 ⬇️

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 01/04/2025

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?

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 12/03/2025

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....

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 10/03/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 05/03/2025

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

76cc07341.flowpaper.com

NUCDF Year in Review 2024

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 03/03/2025

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

nucdf.org

2024 NUCDF Conference Recordings and Presentations

Recordings and presentations from the 2024 NUCDF Family Conference.

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 28/02/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 25/02/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 21/02/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 19/02/2025

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

youtube.com

Caregiver Support Interview: Amy Magyar

YouTube video by National Urea Cycle Disorders Foundation (NUCDF)

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 12/02/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 03/02/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 31/01/2025

🔬 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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 28/01/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 21/01/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 17/01/2025

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 08/01/2025

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 03/01/2025

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...

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Reposted by National Urea Cycle Disorders Foundation

Rare Disease Clinical Trial Network @rarediseasectn.bsky.social · 03/01/2025

📢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/

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Reposted by National Urea Cycle Disorders Foundation

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 11/12/2024

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. doi.org/10.1002/jimd.12828

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 18/12/2024

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 13/12/2024

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...

youtube.com

Zoeys Story

YouTube video by National Urea Cycle Disorders Foundation (NUCDF)

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 12/12/2024

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 10/12/2024

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-...

Photo of Aimée Dudley, Ph.D., of Pacific Northwest Research Institute, whose team has developed a method using yeast genetics to rapidly measure the effects of thousands of variants of a gene that causes human disease. They are collaborating with experts from the Urea Cycle Disorders Consortium to better understand the impact of variants and improve diagnosis of urea cycle disorders.

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 09/12/2024

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 06/12/2024

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 05/12/2024

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

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Reposted by National Urea Cycle Disorders Foundation

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/12/2024

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. doi.org/10.1002/jimd.12815

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 04/12/2024

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...

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 02/12/2024

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

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 27/11/2024

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

An image with fall leaves and pumpkins along with the words "We are thankful for our researchers @nucdf

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 26/11/2024

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

checkammonia.com

Checkammonia.com

Hyperammonemia is a medical emergency. Delayed diagnosis or treatment of Hyperammonemia can lead to neurological damage and potentially a fatal outcome.

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National Urea Cycle Disorders Foundation @nucdf.bsky.social · 26/11/2024

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

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