Our Mission

Call for Research Proposals

The Foundation is calling for research proposals.

If you are a researcher or physician who is interested to study any aspects of Citrin Deficiency, please do not hesitate to contact us to discuss your idea or submit your proposal to us.

Citrin Foundation: Our Mission

Currently, citrin deficiency does not receive a lot of attention because it is thought to be a rare genetic condition and there is no cure for it. We believe, however, that this condition is severely underdiagnosed and underserved, and our resources and commitment could transform our understanding and treatment of this condition. We see realistic hope that we can bring significant advancements to many areas in the next few years.

Our Foundation estimates that the current known patient numbers in key countries with the highest number of citrin deficiency patients in the world represent only a fraction of the real number of patients, based on the carrier rate and benchmarked against the reported number of cases. Further, new cases have been discovered in the US, UK, Canada, South Asia and the Middle-East. 10 years from now, our understanding of citrin deficiency might change from it being a rare Asian condition to a global pan-ethnic condition, with many folds the number of patients. The implication is quite serious, as without the knowledge of this condition and hence the proper diet management, patients run a much higher risk of developing CTLN2, the severe adult onset of this condition.

We believe that our work will have far reaching implications for patients of this condition and other related areas. Citrin deficiency is a very intriguing condition. Though primarily thought to be a liver metabolic condition, it affects many different parts of the body and has a very heterogenous representation of symptoms at different stages of a patient’s life. For example, many patients have developed NASH, and some have developed pancreatitis or hepatoma. Even siblings with the same mutation present different types and degrees of symptoms. By solving these mysteries, we may be able to discover medical findings that will benefit other related areas.

We believe that we can solve this medical problem by using a multi-disciplinary, innovative and long-term approach that will deliver breakthrough treatments and take care of the total well-being of a patient.

Therefore, we seek to work with the top scientists, researchers, and physicians who are in the related fields around the world to solve this medical problem together. We believe that our basic scientific work will eventually allow us to come up with an effective treatment for this condition, or enable us to work with leading institutes, pharmaceutical and biotech companies to develop novel therapeutic treatments such as gene therapy for this condition.

Critical areas such as internationally accepted diagnostic, monitoring and treatment protocols are also lacking. We believe that it is very important to establish a global consortium of physicians and researchers to facilitate collaborations and to create standardized protocols. This will also act as a platform to disseminate information and aggregate feedbacks from physicians around the world treating this condition.

We believe in raising awareness of this condition and providing support to the medical community in tackling this condition. Not a lot is known about this condition and many doctors may miss the diagnosis because the condition is not well known. We hope to educate the medical community of the different aspects of this condition, so that effective diagnosis and the most up-to-date treatments can be provided to the relevant patients in a timely manner.

Last but not least, we believe in providing support to patients and their families so that they can have the appropriate information and resources to manage this condition well. This includes emotional support, such as letting patients know that there are many other patients who have the same condition, and practical support, which includes diet management suggestions. Like so many medical conditions the humankind has had to deal with, citrin deficiency, is best overcome by the patients themselves facing it positively and proactively.

We are confident that together, we can overcome citrin deficiency.


Citrin Foundation

Citrin Foundation, set up in 2016 to tackle citrin deficiency, aims to provide end-to-end support to all citrin deficiency patients, from funding research that drives effective treatments and eventually cure, and provide support to patients and families. We are a patient-driven, not-for profit organization.

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