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...
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
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
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
Here's a link to the major, U.S.-based research consortium doing research into urea cycle disorders #UCDs. A database of their scientific papers, many with plain language summaries, is available here: ucdc.rarediseasesnetwork.org/research-pub...
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
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.
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
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...
The National Urea Cycle Disorders Foundation is now on Bluesky! Please follow @nucdf.bsky.social for the latest on our work to advance research, improve care, and raise awareness of this group of rare genetic diseases
#UCDs #NUCDF #RareDisease #ureacycle #hyperammonemia #metabolicdisorder #IEMs
Important new research: The more we can learn about the experiences of patients in a high ammonia crisis, the more we can improve their care. bit.ly/nucdf-seizur...
#UCDs #RareDisease #Hyperammonemia
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
An image with fall leaves and pumpkins along with the words "We are thankful for our researchers @nucdf
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
New research: Patients with high ammonia levels #hyperammonemia are at high risk of acute seizures. An analysis of data on 40 patients with inborn errors of metabolism hospitalized w/ high ammonia offered key insights (1/3) bit.ly/nucdf-seizur...
#UCDs #RareDisease #neuro
Screenshot of a website displaying several research news stories from the National Urea Cycle Disorders Foundation.
I'm excited to see the growth of #scicomm on Bluesky! Follow me for research news from the National Urea Cycle Disorders Foundation - aiming to improve the lives of people affected by urea cycle disorders, rare genetic metabolic diseases nucdf.org/research-new...
#RareDisease #NUCDF #UCDs
A beautiful calico cat with lots of white, with orange and black on the top of her head laying on a blue bed spread.
There was a time I swore I would never again own a female cat. And then she laid her little trap and somehow I now have her. She’s the best though. #Adopted #UCDS #cat #Calico #catsofbluesky
