Citrin Foundation

Citrin Foundation

Research

Support

Cure

Research

Support

Cure

Who we are

Citrin Foundation is a research-driven, not-for-profit organization set up to tackle citrin deficiency, a monogenetic condition which is an inborn error of metabolism, as well as a urea cycle disorder.

Our goal is to ultimately find effective treatments and a cure for the condition. We fund research projects to better understand the condition and develop new therapies. We also provide support to citrin deficiency patients and their families globally.

The Foundation has committed USD30m to achieve our aims over the next 10 years.

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USD Committed
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Funded Projects

Mission And Vision

Our Research StrategyOur Research Strategy

There are two cornerstones to the Foundation’s mission, finding a cure for citrin deficiency and providing life-long support to citrin deficiency patients. We believe that a multi-disciplinary, innovative, and long-term approach will deliver breakthrough treatments and address the well-being of citrin deficiency patients holistically. Therefore, we seek to work with top scientists, researchers, and physicians who are in related fields around the world to solve this medical problem together.

We have developed the following list of objectives to achieve this:

  • Identify patients with Citrin Deficiency (CD) worldwide

  • Study the natural course of disease in large patient cohorts

  • Improve the diagnosis of CD

  • Understand the basic science and pathogenesis of the disease

  • Explore the benefit of existing therapies

  • Develop new therapies

  • Support affected patients and their families

What We Do

Citrin Foundation aims to act as a nexus connecting researchers, clinicians, biotech companies, and patients, our ultimate goal is to develop effective treatments and to find a cure for this condition.  ​

Research

Funding top scientist, researchers, physicians and fostering collaborations with leading institutes, biotechnology firms, and pharmaceutical companies to better understand CD and ultimately develop a cure for this condition.

Patient Support

Providing lifelong support to patients by facilitating meaningful interactions, offering guidance, and promoting the exchange of up-to-date information about the condition. Explore our patient-focused initiatives on our dedicated website. ​

Professional Network

Join us in becoming a vital part of our global consortium of scientific researchers and clinicians. Together, we collaborate openly, synergistically, and without competition to achieve our shared objectives. Be a part of something greater with us.​

Clinical Landscape of Citrin Deficiency: A Global Perspective on a Multifaceted Condition

Kido et al., 2024, JIMD

Latest Publication

We are pleased to announce a publication by Professor Jun Kido and Professor Johannes Häberle, titled “Clinical Landscape of Citrin Deficiency: A Global Perspective on a Multifaceted Condition”, which was prepared during Professor Kido’s fellowship at the University Children’s Hospital Zürich. This work was supported by the Citrin Foundation Study Abroad Award.

Published on March 2024

Citrin Foundation Team

Citrin Foundation’s team works closely with our Scientific Supervisory Board and Advisors to realise our Foundation’s goals. You may find out more about our different teams by clicking the respective buttons.

Our Team

Scientific Supervisory Board

Advisors

What is Citrin Deficiency?

Citrin Deficiency (CD) is an inherited autosomal recessive metabolic disorder caused by mutations in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier involved in the malate-aspartate shuttle. ​

What is Citrin Deficiency?

Citrin Deficiency (CD) is an inherited autosomal recessive metabolic disorder caused by mutations in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier involved in the malate-aspartate shuttle. ​

News & Events

We held our second in-person Symposium, 18th to 20th Sep 2023 at Magdalene College, University of Cambridge, UK. It was attended by over 50 researchers, clinicians, and biotech representatives from all over the world. The event was a resounding success and demonstrated the new, global, and holistic approach the Foundation has adopted to act as a nexus and bring together professionals with multidisciplinary backgrounds to work collaboratively.