Citrin Foundation

A research-driven, non-profit organization dedicating USD30m to tackle citrin deficiency over the next decade. We fund research and provide patient support.

[Citrin Foundation @citrinfdn]

This marks our final post in this year’s Rare Disease Day series. Thank you to our community members who generously shared their reflections and experiences.
#RareDiseaseDay #CitrinDeficiency #RareDisease

[Citrin Foundation @citrinfdn]

The importance of understanding diet in citrin deficiency.

#RareDiseaseDay
#CitrinDeficiency

[Citrin Foundation @citrinfdn]

The importance of having to listen to your body is something we can all somehow relate to.

#RareDiseaseDay
#CitrinDeficiency

[Citrin Foundation @citrinfdn]

The power of "knowing".

#RareDiseaseDay
#CitrinDeficiency

[Citrin Foundation @citrinfdn]

Read what our community shared for Rare Disease Day💙A simple yet thought-provoking line: “One thing I wish people understood about living with citrin deficiency is…” You can also read them all on our patient website via the link in our bio.
#RareDiseaseDay #CitrinDeficiency

[Citrin Foundation @citrinfdn]

As we reflect on 2025, it has been a productive year for our Foundation. We are grateful for your continued support and look forward to continuing this journey together in 2026. Wishing you a peaceful festive season and a meaningful start to the year ahead.

[Citrin Foundation @citrinfdn]

✨ Join our Peer Support Group! ✨

A welcoming space where members can:

☑️ Share experiences and daily tips

☑️ Ask questions in a judgment-free zone

☑️ Offer encouragement and practical advice

☑️ Connect with others who truly get it

#SupportGroup #citrindeficiency

[Citrin Foundation @citrinfdn]

🚨 New Publication Alert 🚨

https://t.co/JwLf8EpMaO

[Citrin Foundation @citrinfdn]

Citrin deficiency is a genetic condition. How is it inherited?

[Citrin Foundation @citrinfdn]

Join us at the 6th Int’l Symposium on UCD!
Sept 2, 2025 | Kyoto, Japan (satellite to ICIEM)
Registration waivers and travel awards are available for select trainee poster presenters.

See the symposium website for details: https://t.co/ICRFEnvsDn

[Citrin Foundation @citrinfdn]

A huge thank you, and proud to share some memorable moments from our third global symposium. 🎬Here are the highlights: https://t.co/p5WvWofeVG
#RareDisease #CitrinDeficiency #Symposium2025 #IEM #UCD

[Citrin Foundation @citrinfdn]

We’re thrilled to announce the launch of the UCD Translational Center Universität Zürich – Citrin Foundation, the world’s first center dedicated to translational research in urea cycle disorders.

[Citrin Foundation @citrinfdn]

We’re proud to announce the launch of the UCD Translational Center Universität Zürich – Citrin Foundation, the world’s first dedicated center for translational research in urea cycle disorders (UCDs)
🔗 Read more about the Center’s opening on our website:https://t.co/fWELG1ZDum

[Citrin Foundation @citrinfdn]

This latest study offers a comprehensive analysis of genotype-phenotype correlations in citrin deficiency.

This work not only deepens our understanding of the molecular basis of citrin deficiency but also informs clinical management and helps guide future gene-targeted therapies

[Citrin Foundation @citrinfdn]

We’re proud to share that the Citrin Foundation has welcomed a part-time Patient Engagement Assistant in Vietnam!

This local role will:
- Adapt educational materials for Vietnamese families
- Support in-person gatherings and events
- Build stronger connections in the community

[Citrin Foundation @citrinfdn]

Since April is UCD Awareness Month, we collaborated with @CureUCD to highlight how citrin deficiency differs from classical UCDs. Raising awareness helps lead to earlier diagnosis, better management, and stronger support for individuals navigating life with these disorders.

[National Urea Cycle Disorders Foundation (NUCDF) @CureUCD]

Did you know that Citrin Deficiency (CD) is a secondary urea cycle disorder (UCD)? Visit our website to learn more and connect with the Citrin Foundation: https://t.co/b1F1kqcMJO

[Citrin Foundation @citrinfdn]

We are thrilled to share that the National Urea Cycle Disorders Foundation, one of our closest collaborators, is running a Urea Cycle Disorders ECHO program throughout 2025.

[National Urea Cycle Disorders Foundation (NUCDF) @CureUCD]

We are excited to announce that we are partnering with Project Echo to host a new educational series for clinicians, Urea Cycle Disorders: The Essentials.

Find details and a registration link here: https://t.co/2f3K31QJC3

[Citrin Foundation @citrinfdn]

A huge thank you to Pacific Northwest Research Institute for inviting us to be a part of this important event on Rare Disease Day 2025, where over 30 rare disease family foundations were represented https://t.co/OQTqWAPbSQ 🧬

[Citrin Foundation @citrinfdn]

We are very happy to announce a new publication by one of the members of our research consortium at Cambridge University in the Journal of Inherited Metabolic Disease. The full paper can be accessed here: https://t.co/0kvKMUvc2U

[Charles Brenner, PhD @CharlesMBrenner]

thank you

Citrin Deficiency (CD) is the most common rare dz you’ve never heard of

our work explains sweet aversion, lean MASLD, why MCT provides more energy than LCT, & linkage between the integrated stress response & urea cycle dysfunction in CD

tx to @citrinfdn for 🐭 model