Current Research

Research: Citrin Deficiency

 

Research Projects that have been funded by the Citrin Foundation

Highlights of some of the research projects that the Citrin Foundation has funded so far. It is listed according to the order of project commencement dates.

Principal Investigator

Project Title

Dr. Takeyori Saheki

  1. Test if any amino acid compounds can provide an effective treatment for patients in different stages of the condition.
  2. To understand the cause of ASS decline in CTLN2 patients despite their ASS genes being intact.
  3. To understand why lactose is harmful to NICCD patients but beneficial to patients post-NICCD.
  4. To understand why there is a silent period post-NICCD.

Dr. Yoshiyuki Okano

  1. Develop a standardized patient management protocol for doctors around the world to refer to.
  2. Develop detail diet management suggestions by doing detail patient surveys.

Dr. Jorgina Satrústegui

     Gene therapy for Citrin deficiency. A proof of principle

Dr. Edmund Kunji

     Characterising the role of the human aspartate/glutamate carrier in citrin deficiency

 

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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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