Funded Research - Therapies - Citrin Foundation

Here are the research projects examining potential therapies that Citrin Foundations is currently funding and has previously funded.
You can click on the Principal Investigator’s name to read their full biography.

Ongoing Projects

Responsive 40/60 Table

Principal Investigator	Research Summary
Dr. Julien Baruteau University College London Great Ormond Street Hospital, UK	mRNA therapy for Citrin deficiency LEARN MORE
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 LEARN MORE
Professor Yukio Nagasaki University of Tsukuba, Japan	Development of Nano-Amino Acids for Citrin Deficiency LEARN MORE
Professor Joseph Baur University of Pennsylvania, USA	Modulating NAD+ availability in a rodent model of citrin deficiency LEARN MORE

Concluded Projects

Responsive 40/60 Table

Principal Investigator	Research Summary
Professor Jorgina Satrústegui Universidad Autónoma de Madrid, Spain	Citrin replacement with Aralar: dissecting the Citrin-Aralar interactions LEARN MORE
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) LEARN MORE

Professor Jorgina Satrústegui

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.

Professor Satrústegui obtained her PhD in Madrid, carried out postdoctoral research in Massachusetts General Hospital (Harvard) and the Johnson Foundation (UPenn), and was appointed as Professor at the Autonomous University of Madrid in 1993. She leads a research laboratory which over the years focused on the study of a new system to transduce calcium signals to mitochondria, which relies on the use of calcium regulated mitochondrial carriers. These are:

the aspartate-glutamate carriers, AGC1/ Aralar/ Slc25a12 and AGC2/ Citrin/ Slc25a13, components of the malate aspartate NADH shuttle; and
the ATP-Mg/Pi carriers, SCaMC1/ APC1/ Slc25a24, SCaMC2/ APC3/ Slc25a25, and SCaMC3/ APC2/ Slc25a23 which participate in regulating the total adenine nucleotide content of mitochondria.

She is specifically interested in their role in transducing calcium signals to mitochondria in neurons, as compared to the role of the mitochondrial calcium uniporter, and she has addressed these studies with the help of knock-out (KO) mice. Another main concern of her lab is to understand the role of these carriers in human disease. Particularly, disease related to mutations in these carriers, such as AGC1 deficiency.

Professor Masahide Yazaki

Neurologist and Professor, Department of Biological Sciences for Intractable Neurological Diseases, Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan.

Professor Masahide Yazaki graduated from Shinshu University School of Medicine, Matsumoto, Japan (M.D.) in 1992 and he graduated from the Graduate School of Medicine, Shinshu University in 1998 (Ph.D.). He worked as a neurologist in Shinshu University Hospital. In 1999, he moved to Department of Pathology and Lab Medicine, Indiana University, USA as a postdoctoral fellow to study the pathogenesis of protein-misfolding disease such as amyloidosis. He returned to Shinshu University in 2002, and became Associate Professor, Department of Neurology and Rheumatology, Shinshu University School of Medicine in 2011. In 2014, when the Institute for Biomedical Sciences was established in Shinshu University, he moved to Department of Biological Sciences for Intractable Neurological Diseases, Institute for Biomedical Sciences as an Associate Professor. There, he is continuing basic and clinical research on amyloidosis and citrin deficiency. In 2017, he was promoted to be a Professor at the School of Health Sciences and Institute for Biomedical Sciences, Shinshu University.

To date, Professor Yazaki has performed clinical and pathological studies of CTLN2 patients in Japan to elucidate the clinical pictures of CTLN2 and to establish the therapeutic strategy for CTLN2 patients.

Professor Yukio Nagasaki

Professor Yukio Nagasaki was born in 1959. He received his B.S. and Ph.D. degrees from the Engineering Department at the Tokyo University of Science in 1982, and 1987 respectively. He was previously affiliated with the Tokyo University of Science where he served as a Research Associate, Assistant Professor, Associate Professor, and Professor. In 2004, he moved to the Graduate School of Pure and Applied Sciences, University of Tsukuba where he has been appointed as Professor and Principal Investigator.

He has published more than 200 scientific papers and received several awards such as the Inoue Foundation Award for Distinguish Ph.D. Thesis (1990), SPSJ Mitsubishi Chemical Award (2010), The Award of Japanese Society for Biomaterials (2014), The Award of The Japanese for Ulcer Society (2014), The Nagai Award from The Japan Society of Drug Delivery System (2015), and Polymer Society award, Japan (2017).

He is now focusing on the development of “self-assembling drugs” supported by the MEXT budget (Grant #19H05458). He developed a nano-particle type antioxidant, which presents the mitochondrial dysfunction of normal cells and works effectively on oxidative stress-related diseases such as Alzheimer’s disease and cancers. Based on this mechanism, he started to create a new concept on self-assembling drugs, which can improve their therapeutic effect and/or decrease their adverse effects, which cannot obtain by only simple compounds. Using this concept, he is now developing versatile drugs based on amino acids and short-chain fatty acids.

Professor Gerald Schwank

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

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.

Professor Joseph Baur

Joseph Baur is a Professor in the Department of Physiology and the Institute for Diabetes, Obesity, and Metabolism at the Perelman School of Medicine of the University of Pennsylvania. He has made key contributions to the understanding of how metabolism and dietary factors influence longevity.

In 2006, Dr. Baur and colleagues showed that a small molecule, resveratrol, is able to improve insulin sensitivity and ameliorate premature mortality in obese mice. He led a team that revealed a mechanism accounting for off-target effects of rapamycin, a drug that extends life in mice, but has side effects that limit its utility in humans. His laboratory at Penn is currently focused on the use of small molecules to understand and mimic the health-promoting effects of caloric restriction in rodents.

Within this area, a central focus of the lab is on understanding how changes in nicotinamide adenine dinucleotide (NAD⁺) metabolism contribute to aging, obesity, and disease. The Baur lab employs genetic models, isotopic labeling strategies, and metabolomics to probe the pathways by which NAD⁺ is synthesized and influences whole-body metabolism. The lab also has a strong interest in compartmentalization of NAD⁺ pools and was among several to recently co-discover the mitochondrial NAD⁺ transporter SLC25A51. Dr. Baur has co-authored more than one hundred peer-reviewed publications, as well as several book chapters and numerous invited commentaries and reviews.

Dr. Julien Baruteau

Dr Julien Baruteau is an MRC Clinician Scientist Fellow at University College London Great Ormond Street Institute of Child Health, and Consultant in Metabolic Medicine at Great Ormond Street Hospital for Children (GOSH) in London.

He graduated in Pediatrics from Toulouse University, France in 2008. He then specialised in Pediatric Inherited Metabolic Medicine in Paris and Toulouse. He joined the Metabolic Medicine Department at GOSH in 2012. He has been granted various fellowships from Action Medical Research (2013-2016), GOSH Charity (2017), National Institute for Health Research GOSH Biomedical Research Centre (2018-2019) and the Medical Research Council to conduct his research (2020-present). He received his PhD in Gene Therapy at UCL in 2017 under the supervision of Prof Simon Waddington.

His research focuses on studying the pathophysiology and developing novel therapies for inherited metabolic diseases. His group works on the pathophysiology of hepatic and cerebral arginine deficiency. He has developed gene therapy using both viral and non-viral vectors and is the UK chief investigator in first-in-human gene therapy clinical trials. He has expertise in translating academic and industry-led programmes of gene therapies. He is the member of experts’ committees from the European Society of Gene and Cell Therapy (2023-present) and the European Society of Human Genetics (2023-present).

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.

Ongoing Projects

Concluded Projects

Calling for Research Proposals

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Funded Research – Therapies

Ongoing Projects

Concluded Projects

Calling for Research Proposals

Find Out More

Get In Touch