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
Please click on the respective research summaries to learn more
| Principal Investigator | Research Summary |
|---|---|
| Professor Johannes Häberle and Professor Kimitoshi Nakamura |
Multi-omics study in citrin deficiency for characterization of disease-specific metabolites and biomarker identification |
| Professor Kimitoshi Nakamura |
Establishment of Citrin Deficiency Center of Excellence at Kumamoto University |
| Dr. Ayano Inui |
Natural history of citrin deficiency patients |
| Professor Masahide Yazaki |
Detailed genetic testing for patients suspected of having citrin deficiency |
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 |
Please click on the respective research summaries to 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 is conducting 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. Professor Häberle is chairperson of the European working group for Guidelines for the Diagnosis and Treatment of Urea Cycle Disorders, and a member of the Executive and Scientific Boards of the European Registry and Network for Intoxication Type Metabolic Diseases (EIMD). He is Chair of the Society for the Study of Inborn Errors of Metabolism (SSIEM) Education And Training Advisory Committee (ETAC) and Council member of the SSIEM. His research focusses on inherited defects of ureagenesis and on the development of novel treatment options for urea cycle disorders. Current projects are supported by the Swiss National Science Foundation, the University Research Priority Program (URPP) ITINERARE of the University Zürich, and other private foundations.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.
