Citrin Foundation

We are pleased to announce a new publication on citrin deficiency in Molecular Metabolism titled, “𝐃𝐢𝐬𝐭𝐢𝐧𝐜𝐭 𝐫𝐨𝐥𝐞𝐬 𝐟𝐨𝐫 𝐭𝐡𝐞 𝐝𝐨𝐦𝐚𝐢𝐧𝐬 𝐨𝐟 𝐭𝐡𝐞 𝐦𝐢𝐭𝐨𝐜𝐡𝐨𝐧𝐝𝐫𝐢𝐚𝐥 𝐚𝐬𝐩𝐚𝐫𝐭𝐚𝐭𝐞/𝐠𝐥𝐮𝐭𝐚𝐦𝐚𝐭𝐞 𝐜𝐚𝐫𝐫𝐢𝐞𝐫 𝐜𝐢𝐭𝐫𝐢𝐧 𝐢𝐧 𝐨𝐫𝐠𝐚𝐧𝐞𝐥𝐥𝐚𝐫 𝐥𝐨𝐜𝐚𝐥𝐢𝐳𝐚𝐭𝐢𝐨𝐧 𝐚𝐧𝐝 𝐬𝐮𝐛𝐬𝐭𝐫𝐚𝐭𝐞 𝐭𝐫𝐚𝐧𝐬𝐩𝐨𝐫𝐭.” This original research study, co-funded by the Citrin Foundation, offers new insights into the function of the citrin protein and the defects elicited by missense pathogenic mutations, advancing the field of citrin deficiency research. ⁣ ⁣ We warmly congratulate all authors on this significant achievement. These extensive studies represent a tremendous effort by the entire team, and we commend the authors for their dedication. We hope you find the paper both informative and valuable. ⁣ You can read the full paper here: https://lnkd.in/e9yCFpKr 

Earlier this month, the Foundation hosted a webinar on 𝗖𝗶𝘁𝗿𝗶𝗻 𝗗𝗲𝗳𝗶𝗰𝗶𝗲𝗻𝗰𝘆 𝗶𝗻 𝗠𝗮𝗹𝗮𝘆𝘀𝗶𝗮 which brought together professionals from all over the country to learn more about the condition.  We would like to extend our gratitude to our speakers and attendees for their valuable contributions and look forward to working more closely with the cohort in Malaysia.  If you would like to collaborate on similar events in your country for your medical or patient community, please reach out to info@citrinfoundation.org

Lovely new review article from John E. Walker of the MRC Mitochondrial Biology Unit detailing 5 decades of work to understand the pathophysiology of Citrin metabolism and how this leads to the varied picture observed in Citrin Deficiency. Read 👉🏻 https://lnkd.in/epsv4vg4 Commissioned for the imminent special issue Ureagenesis Defects: Novel Models and Treatment Options My path to citrin deficiency John E. Walker Citrin Foundation #citrindeficiency

We are thrilled to announce the publication of a new review article by the Chairman of our Scientific Supervisory Board, 𝗣𝗿𝗼𝗳𝗲𝘀𝘀𝗼𝗿 𝗦𝗶𝗿 𝗝𝗼𝗵𝗻 𝗘. 𝗪𝗮𝗹𝗸𝗲𝗿, Nobel Laureate (Chemistry,1997). His article, “𝙈𝙮 𝙋𝙖𝙩𝙝 𝙩𝙤 𝘾𝙞𝙩𝙧𝙞𝙣 𝘿𝙚𝙛𝙞𝙘𝙞𝙚𝙣𝙘𝙮,” was specially commissioned for the recent JIMD issue, 𝘜𝘳𝘦𝘢𝘨𝘦𝘯𝘦𝘴𝘪𝘴 𝘋𝘦𝘧𝘦𝘤𝘵𝘴: 𝘕𝘰𝘷𝘦𝘭 𝘔𝘰𝘥𝘦𝘭𝘴 𝘢𝘯𝘥 𝘛𝘳𝘦𝘢𝘵𝘮𝘦𝘯𝘵 𝘖𝘱𝘵𝘪𝘰𝘯𝘴, as he was the keynote speaker for the Citrin Deficiency spotlight at the Ureagenesis Conference held in Valencia in 2022. It is now available online. Read the paper: https://lnkd.in/epsv4vg4 

We are excited to share that earlier this month, the Journal of Inherited Metabolic Disease published a special issue, 𝙐𝙧𝙚𝙖𝙜𝙚𝙣𝙚𝙨𝙞𝙨 𝘿𝙚𝙛𝙚𝙘𝙩𝙨: 𝙉𝙤𝙫𝙚𝙡 𝙈𝙤𝙙𝙚𝙡𝙨 𝙖𝙣𝙙 𝙏𝙧𝙚𝙖𝙩𝙢𝙚𝙣𝙩 𝙊𝙥𝙩𝙞𝙤𝙣𝙨. The issue sheds a spotlight on citrin deficiency, including a research publication that was funded by the Foundation and several review papers by our close collaborators. This special issue was borne from the 𝟮𝗻𝗱 𝗜𝗻𝘁𝗲𝗿𝗻𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝗖𝗼𝗻𝗳𝗲𝗿𝗲𝗻𝗰𝗲 𝗼𝗻 𝗨𝗿𝗲𝗮𝗴𝗲𝗻𝗲𝘀𝗶𝘀 𝗗𝗲𝗳𝗲𝗰𝘁𝘀 𝗮𝗻𝗱 𝗔𝗹𝗹𝗶𝗲𝗱 𝗖𝗼𝗻𝗱𝗶𝘁𝗶𝗼𝗻𝘀, held in Valencia, Spain, from October 16–20, 2022. Citrin Foundation was honoured to partner with the conference organizers, hosting and sponsoring a dedicated Citrin Deficiency Spotlight Session. Link to the full issue: https://lnkd.in/ebPHMsPq

From November 7th to 9th, the Citrin Foundation participated in the 65th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases (JSIMD). A highlight of the meeting was the Citrin Deficiency Symposium, hosted by the Foundation on November 8th. The symposium focused on recent advances in novel therapies and cellular models for citrin deficiency. Moderated by Kimitoshi Nakamura and Kimihiko Oishi, the well-attended session opened with an overview presentation by the Foundation’s Co-founder and President, Barbara Yu, followed by presentations from Joseph Baur, Julien Baruteau, and Jun Kido—each leading Foundation-sponsored projects in citrin deficiency. The Foundation also organized a citrin deficiency luncheon, bringing together scientists, clinicians, and close collaborators interested in advancing citrin deficiency research. This gathering provided a space to exchange new ideas and strengthen relationships with key partners. The Foundation’s annual participation in the JSIMD meeting strengthens our international collaborations and crucially reinforces our deep ties with Japan—a region central to our mission.

I am excited to share our work on citrin deficiency, caused by mutations of the mitochondrial aspartate/glutamate carrier. I am really grateful to all the co-authors and collaborators for the great effort to shed light on this complex disease and to the Citrin Foundation for their support. https://lnkd.in/ebCAPDJ7

At this year's SSIEM, the Foundation presented a poster titled "Unravelling the Enigma of Citrin Deficiency: A Novel Holistic Multidisciplinary Approach." The poster outlines the complexity of CD and provides an overview of the Foundation’s multidisciplinary approach to address these challenges. By highlighting the intricate and complex nature of CD, the poster calls for collaborative efforts and invites those interested to join us in advancing research and treatment for this condition.

At this year’s SSIEM meeting in Porto, the Citrin Foundation hosted a roundtable titled "Multi-Stakeholder Perspectives on the Development of Novel Therapies for Monogenic Metabolic Diseases." Moderated by Barbara Yu and Cary O. Harding, the event featured leading regulators Peter Marks, Director, Center for Biologics Evaluation and Research from the FDA, and Kristina Larsson Head of Office for Orphan Medicines from the EMA, along with patient advocates, researchers, and clinicians. Panellists discussed the challenges of translating preclinical findings into clinical trials for monogenic inherited metabolic diseases, focusing on the role of suitable biomarkers and clinical endpoints. Optimizing clinical trial designs suitable for different therapies such as whether there is the need for controls (especially for paediatric patients), and the benefits of early patient and regulator involvement in trial designs were also discussed. The panel ended with a positive note that progress is being made by the leading regulators on streamlining orphan drug approval processes and possible global collaboration in this regard. With over 100 attendees, the event was a great success, underscoring the importance of ongoing dialogue and collaboration among key stakeholders. We would like to extend our gratitude to the panellists for their valuable contributions. We hope this event marks a step forward in advancing treatment development for rare diseases.