Urea Cycle Disorders Consortium

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. youtu.be/xI-_V0K6be8

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

🎧 New PODCAST 🎙 Lessons from adult metabolic medicine with Fanny Mochel Soundcloud: soundcloud.com/user-109006120… Apple: podcasts.apple.com/gb/podcast/les… or search for JIMD Podcasts wherever you get your podcasts. #podcasts #inheritedmetabolicdisease #adultIMD

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

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

@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.

Curious about pregnancy outcomes in Urea Cycle Disorders? We've got the podcast for you, with Margreet Wagenmakers and Karolina Stepien. Apple: podcasts.apple.com/gb/podcast/pre… Soundcloud: soundcloud.com/user-109006120… Spotify: open.spotify.com/episode/6neW4Y… @UCDConsortium @ureacyclerm

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

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. ➡️ bit.ly/3uXcSPS

A Bird’s-Eye View of a Technicolor World nytimes.com/2024/01/23/sci…

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

Patients with urea cycle disorder struggle when driving: A functional ... sciencedirect.com/science/articl… Pay attention to what the patients tell you at advocacy meetings!

Clinical Variants Paired with Phenotype: A Rich Resource for Brain Gene Curation pubmed.ncbi.nlm.nih.gov/38059438/ This will be such a great resource. Glad our team is able to take part in this research

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

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: #UCDC" target="_blank" rel="nofollow noopener">rarediseasesnetwork.org/news/research-…

Important observations!

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.

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 sciencedirect.com/science/articl… 1/5

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.