Here are the research projects examining potential therapies that Citrin Foundation is currently funding. You can click on the Principal Investigator’s name to read their full biography.
Ongoing Projects
| Principal Investigator | Research Summary |
|---|---|
| Dr. Julien Baruteau University College London, Great Ormond Street Hospital, UK |
mRNA therapy for Citrin deficiency |
|
Professor Gerald SchwankUniversity of Zürich, Switzerland
Professor Johannes Häberle
University Children’s Hospital Zürich, University of Zürich, Switzerland |
Gene editing of SLC25A13 to treat citrin deficiency |
| Professor Yukio Nagasaki University of Tsukuba, Japan |
Development of Nano-Amino Acids for Citrin Deficiency
|
| Professor Joseph Baur University of Pennsylvania, USA |
Modulating NAD+ availability in a rodent model of citrin deficiency |
Please click on the respective research summaries to learn more
| Principal Investigator | Research Summary |
|---|---|
| Dr. Julien Baruteau University College London, Great Ormond Street Hospital, UK | mRNA therapy for Citrin deficiency |
| Professor Gerald Schwank University of Zürich, Switzerland
Professor Johannes Häberle University Children’s Hospital Zürich, University of Zürich, Switzerland |
Gene editing of SLC25A13 to treat citrin deficiency |
| Professor Yukio Nagasaki University of Tsukuba, Japan | Development of Nano-Amino Acids for Citrin Deficiency |
| Professor Joseph Baur University of Pennsylvania, USA | Modulating NAD+ availability in a rodent model of citrin deficiency |
Concluded Projects
| Principal Investigator | Research Summary |
|---|---|
| Professor Jorgina Satrústegui
Universidad Autónoma de Madrid, Spain |
Citrin replacement with Aralar: dissecting the Citrin-Aralar interactions
|
| Professor Masahide Yazaki
Shinshu University, Japan |
Evaluation of therapeutic efficacy and safety of oral LOLA (L-ornithine, L-aspartate) for CTLN2: A non-double blind pilot study(CTLN2) |
Please click on the respective research summaries to learn more
| Principal Investigator | Research Summary |
|---|---|
| Professor Jorgina Satrústegui Universidad Autónoma de Madrid, Spain | Citrin replacement with Aralar: dissecting the Citrin-Aralar interactions |
| Professor Masahide Yazaki Shinshu University, Japan | Evaluation of therapeutic efficacy and safety of oral LOLA (L-ornithine, L-aspartate) for CTLN2: A non-double blind pilot study(CTLN2) |
Professor Jorgina Satrústegui is a Professor of Biochemistry and Molecular Biology at the Centro de Biologia Molecular Severo Ochoa (CBMSO), of the Universidad Autónoma de Madrid, Spain.
Neurologist and Professor, Department of Biological Sciences for Intractable Neurological Diseases, Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan.
P
Dr. Gerald Schwank obtained his PhD at the University of Zürich in 2009. As a postdoctoral fellow he joined the team of Hans Clevers at the Hubrecht Institute, where he established genome editing approaches in adult stem cell systems. In 2014 he started his own laboratory at ETH Zürich, where his team was dedicated to the establishment of CRISPR-based genetic tools to study human disease mechanisms. More recently the Schwank laboratory shifted its focus on the development of in vivo genome editing approaches to cure monogenic diseases of the liver and brain. In 2020 Gerald Schwank was appointed as Associate Professor at the University of Zürich, where he and his team continue to pursue their goal of generating novel genome editors and translating these technologies from bench to bedside.
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) 
All publications that have been supported by the Foundation can be found on the Publications page.
