This abstract and the accompanying poster was presented at the 45th Society for Inherited Metabolic Disorders (SIMD) Annual Meeting held in April 2024 in Charlotte, North Carolina. The paper was published in Molecular Genetics and Metabolism and is available for viewing here: Molecular Genetics and Metabolism| The model of citrin deficiency: Adopting a new approach to rare diseases
This abstract outlines the Foundation’s approach to addressing Citrin Deficiency, detailing the background and methodology employed. It also highlights the results of several ongoing research projects spearheaded by the Foundation.
We extend our sincere gratitude to all consortium members, whose invaluable research contributions were instrumental in the development of this paper.
The Foundation continues to fund research projects to better understand citrin deficiency and ultimately find a cure for this condition. We have thus far earmarked US$30 million for research on citrin deficiency are currently offering generous research grants to study the condition. You may find out more about our Funding Opportunities here: https://citrinfoundation.org/research/funding-opportunities/.
We value any feedback or ideas you might have, so please do not hesitate to contact us at info@citrinfoundation.org
