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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

submitted 16 hours ago • 0 comments

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

submitted 3 days ago • 0 comments

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

submitted 6 days ago • 0 comments

Did you know?: 70% of genetic rare diseases start in childhood. #rarediseaseday #raredisease #rarediseases #facts #nucdf

submitted 7 days ago • 0 comments

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...

submitted 10 days ago • 0 comments

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

submitted 12 days ago • 0 comments

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...

submitted 19 days ago • 0 comments

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

submitted 28 days ago • 0 comments

🔬 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...

submitted 31 days ago • 0 comments

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...

submitted 34 days ago • 0 comments

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

submitted 41 days ago • 0 comments

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

submitted 45 days ago • 0 comments

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...

submitted 54 days ago • 0 comments

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...

submitted 59 days ago • 1 comment

📢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/

submitted 60 days ago • 0 comments

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

submitted 62 days ago • 0 comments

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

submitted 83 days ago • 0 comments

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...

submitted 75 days ago • 0 comments

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...

submitted 76 days ago • 1 comment

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...

submitted 80 days ago • 0 comments

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

submitted 81 days ago • 0 comments

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-...

submitted 83 days ago • 1 comment

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

submitted 84 days ago • 0 comments

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

submitted 87 days ago • 0 comments

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

submitted 88 days ago • 0 comments

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

submitted 90 days ago • 0 comments

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...

submitted 89 days ago • 0 comments

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

submitted 91 days ago • 0 comments

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

submitted 96 days ago • 0 comments

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

submitted 97 days ago • 1 comment

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

submitted 97 days ago • 0 comments