Here are the Clinical projects that Citrin Foundation is currently funding and has previously funded.
You can click on the Principal Investigator’s name to read their full biography.
Ongoing Projects
| Principal Investigator | Research Summary |
|---|---|
|
Professor Dau-Ming Niu Taipei Veterans General Hospital, Taiwan |
Ureagenesis Function Test and Multi-omics Analysis and the Effects of MCT in Citrin Deficiency Patients |
|
Professor Johannes Häberle University Children’s Hospital Zürich, University of Zürich, Switzerland Professor Kimitoshi Nakamura Kumamoto University, Japan |
Multi-omics study in citrin deficiency for characterization of disease-specific metabolites and biomarker identification LEARN MORE |
|
Professor Kimitoshi Nakamura Kumamoto University, Japan |
Establishment of Citrin Deficiency Center of Excellence at Kumamoto University LEARN MORE |
Concluded Projects
| Principal Investigator | Research Summary |
|---|---|
| Dr. Yoshiyuki Okano |
Preparation of guidelines for treatment of citrin deficiency in NICCD period and compensatory period and elucidation of risk factors for onset of CTLN2 LEARN MORE |
|
Dr. Ayano Inui Saiseikai Yokohamashi Tobu Hospital, Japan |
Natural history of citrin deficiency patients LEARN MORE |
|
Professor Masahide Yazaki Shinshu University, Japan |
Detailed genetic testing for patients suspected of having citrin deficiency LEARN MORE |
Dr. Inui is a Director in Division of Pediatric Hepatology and Gastroenterology at Saiseikai Yokohamashi Tobu Hospital, a Professor at Toho Graduate School of Medicine, and a Vice Chief Director at Japan Pediatric Hepatology Research Center.
Neurologist and Professor, Department of Biological Sciences for Intractable Neurological Diseases, Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan.
Dr. Yoshiyuki Okano holds a MD from Yamaguchi University and a PhD in Medical Science from Osaka City University, Japan. He has worked on the molecular genetics of phenylketonuria in the Savio L.C. Woo laboratory at Baylor College of Medicine in Houston. After returning to Japan, he conducted clinical studies and research on congenital metabolic disorders such as neonatal mass screening, PKU, galactosemia, and citrin deficiency in Osaka City University and his clinic.
Professor Johannes Häberle is a pediatrician, neonatologist and intensive care specialist, and a senior metabolic consultant at the University Children’s Hospital in Zürich. He is an Assistant Professor for Pediatrics at the University of Zürich, and Head of the Metabolic Laboratory at the University Children’s Hospital.
All publications that have been supported by the Foundation can be found on the Publications page.
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.
