Urea Cycle Disorders Consortium

The UCDC is dedicated to improving the lives of individuals affected by urea cycle disorders. An international collaboration, part of NIH RDCRN @rarediseasesnet

[Urea Cycle Disorders Consortium @UCDConsortium]

The UCDC has been studying the natural history of people with urea cycle disorders since we began. If you have a UCD, and you are interested in joining this longitudinal study, see our video for further information.

https://t.co/W8dwJupP5h

[Sam Ghali, M.D. @EM_RESUS]

Here’s one of the most insane X-Rays I’ve ever seen

What’s the diagnosis?

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

🎧 New PODCAST 🎙 Lessons from adult metabolic medicine with Fanny Mochel

Soundcloud: https://t.co/bIWxBgtfb3
Apple: https://t.co/Iin2pVo9Z2
or search for JIMD Podcasts wherever you get your podcasts.

#podcasts #inheritedmetabolicdisease #adultIMD

[Curtis Coughlin II @CoughlinIi]

From mice to zebrafish with @Matt_Muscle_Guy at #SIMD2024. Zebrafish are also my favorite model

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

When a new podcast has just dropped but you’re listening to the one that’s due to be released in 6 weeks!
#podcasting #PKU #pregnancy #kuvan @NSPKU @NPKUA_Info

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

@NCAresearchNHS @NcaResearch Karolina Stepien of Salford Royal Infirmary joined us for this podcast looking at management and outcomes of pregnancy in mothers with urea cycle disorders.

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Curious about pregnancy outcomes in Urea Cycle Disorders? We've got the podcast for you, with Margreet Wagenmakers and Karolina Stepien.

Apple: https://t.co/0mt6zsC3t4

Soundcloud: https://t.co/8cI8F2WkTE

Spotify: https://t.co/i7aIJAYiaV

@UCDConsortium @ureacyclerm

[Urea Cycle Disorders Consortium @UCDConsortium]

Cindy was a force of nature. We miss her!😢😭

[Susan Berry @BerryS730]

Attending the National Urea Cycle Disorders Foundation conference. All honors to Cindy LeMons, lost to us but in our hearts😢@UCDConsortium

[M Health Fairview Pediatrics @mhfvpediatrics]

Our Rare Disease program is at the forefront of medicine. New therapies are changing the future of what’s possible for children and adults born with diseases like Hurler syndrome, metachromatic leukodystrophy, or adrenoleukodystrophy. Find out more. ➡️ https://t.co/Tk0tHvmkFS

[Urea Cycle Disorders Consortium @UCDConsortium]

A Bird’s-Eye View of a Technicolor World https://t.co/822HUtDu2Q

[James Nurse @DrJNurse]

@AndreaGropman @nspku @emmavardy2 how listening to patient groups yields unexpected disease insights.

[Andrea Gropman @AndreaGropman]

Patients with urea cycle disorder struggle when driving: A functional ... https://t.co/aCLfg8jSAI
Pay attention to what the patients tell you at advocacy meetings!

[Andrea Gropman @AndreaGropman]

Clinical Variants Paired with Phenotype: A Rich Resource for Brain Gene Curation https://t.co/X0GVQvTAMn

This will be such a great resource. Glad our team is able to take part in this research

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

The observation that around 50% of adult UCD patients had never driven or stopped driving prompted interesting work to explore why this might be.
@UCDConsortium @ureacyclerm

[Rare Diseases Clinical Research Network @rarediseasesnet]

New research from the #UreaCycleDisorders Consortium @UCDConsortium:

✅ Residual #Enzymatic Activity as Assessed by a Novel Cell-based Expression System Helps Predict Disease Severity in Males with #OrnithineTranscarbamylaseDeficiency

Listen & read more: https://t.co/RBmGSxhvcN

[Urea Cycle Disorders Consortium @UCDConsortium]

Important observations!

[JCI insight @JCI_insight]

Argininosuccinate lyase deficiency-associated NO reduction underlies BBB dysfunction: https://t.co/1ULuPvByJo
@JKhoPhD @bcmgenetics
#Genetics #Neuroscience

[Jordan Kho, PhD @JKhoPhD]

The research that I conducted during my postdoc at @bcmgenetics is finally published! This study was partially funded by the grant that I received from the @UCDConsortium and dedicated to the memory of Cindy Lemons from the National Urea Cycle Disorder Foundations.

[Chaya Nautiyal Murali @chayasays]

I'm excited to share my latest publication about quality of life in the largest systematically assessed cohort of individuals with urea cycle disorders! 🧬😀🙁🧵
@bcmhouston @bcmgenetics @UCDConsortium
https://t.co/W87G3RhvA5
1/5

[ACMG @TheACMG]

Good luck to all candidates as you navigate the Medical Genetics #FellowMatch process! There's never been a more exciting time to be a medical geneticist.