Calling for Research Proposals

The Foundation is calling for research proposals. If you are a scientist or medical professional 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.  We will be willing to fund the research if it meets our criteria after careful evaluation by our scientific committee.

We are particularly interested in finding out more in the following areas:

  • To understand, at the cellular, esp mitochondrial level, the full range of functions played by citrin, and consequently, what cellular level problems would be caused by citrin deficiency. Currently, we understand that citrin plays a role in galactose synthesis, glycolysis, gluconeogenesis and urea cycle. However, citrin deficiency does not cause galactosemia in most patients, and galactose intolerance disappears before the age of one.
  • Patients have a wide range of symptoms, to vastly varying degrees. It seems we have a broad understanding of citrin, but not a precise understanding at a cellular level. Understanding this is one of the most important priorities of the Foundation.  
  • ​​​Relatedly, even though it has long been theorized that citrate/pyruvate and citrate/malate shuttles play a role in the transport of cytosolic NADH reducing equivalent to the mitochondria, it has never been confirmed. This is very important because it is due to the sustained elevated level of NADH/NAD in the cytosol caused by high carbohydrate that eventually leads to hyperammonemia. We would like to have a much more definitive understanding of this.
  • The widely diverging progressions of the condition probably point to the existence of alternative pathways or modifier genes. However, given the multiple roles citrin play, the picture is not that simple. Again, we would like to map out more precisely the alternative pathways or modifier genes.
  • CTLN2 patients are characterised by the decline of ASS activities in the liver despite their ASS genes being intact. We would like to understand more what causes the decline of ASS activities throughout the lifecycle of a patient. We believe that understanding this may be important in finding out what precisely causes the onset of CTLN2.​
  • Lactose (more specifically galactose) free diet is the main treatment for infant-onset patients (NICCD). However, post-NICCD, lactose is the preferred food of choice for many patients. According to them, cow milk makes them feel better. This transformation is not well understood. Due to this lack of understanding, some doctors even advocate lactose-free diet for life. This has a big implication on treatment protocols and we hope to develop a better understanding in this.
  • Thus far, the investigation of citrin deficiency centers primarily on its role in the liver. However, citrin is also present in the intestines and pancreas, and pancreatitis is commonly found in the adult-onset patients. Pancreatic Secretory Trypson Inhibitor (PSTI) is thus far the best predictive biomarker for adult-onset patients. We would like to understand more citrin's role in other parts of the body esp the intestines and pancreas.  
  • Most adult-onset patients and many silent-period patients have NASH or fatty liver.  Most of these people have below average BMI. Some adult-onset patients have hepatoma instead of psychiatric symptoms. The mechanism is not well-understood.
  • Lastly, since Citrin Deficiency is a monogenic condition and is predominantly a liver condition, we believe that it is very suitable for gene therapy.  We would like to explore the possibilities of gene therapy to treat this condition.



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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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