Citrin Foundation
@citrinfdn
A research-driven, non-profit organization dedicating USD30m to tackle citrin deficiency over the next decade. We fund research and provide patient support.
ID: 1577607457211404289
05-10-2022 10:31:55
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57 Followers
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Citrin Deficiency is likely the most common rare disease you’ve never heard of caused by inactivation of SLC25A13, there are more ppl w CD in China than there are globally w Cystic Fibrosis i was introduced to CD by Citrin Foundation bc it inactivates 1 aspect of the NAD system
as adults, ppl w CD are lean, have fatty liver & don’t like sweets thanks to Citrin Foundation ‘s gift of sperm from mouse CD model, we were able to figure out what is happening in this #raredisease in fact it explains an amazing swath of common biology
we also designed potential drugs to boost production of FGF21 tx to collaborators Russell Goodman Mark Herman Cassie Spracklen my lab’s Vinod Tiwari, Olivia Sun, Edwin DJ Lopez Gonzalez Citrin Foundation for introducing me to CD @nih support surely required for drugs to be developed
Russell Goodman Mark Herman Citrin Foundation NIH here’s the preprint paper is in peer review & has been presented at major conferences, medical centers & universities we hope you enjoy this work doi.org/10.1101/2024.1…
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 Citrin Foundation for 🐭 model
Since April is UCD Awareness Month, we collaborated with National Urea Cycle Disorders Foundation (NUCDF) 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.
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:citrinfoundation.org/ucd-translatio…
