Speakers

Scientific Supervisory Board

John Walker

Professor Sir John Walker FRS studied chemistry at St Catherine’s College, Oxford. After periods of study and research at the University of Wisconsin, USA, and The Pasteur Institute in Paris, in 1974 he joined the Laboratory of Molecular Biology of The Medical Research Council (MRC) in Cambridge, where he helped to discover overlapping genes in bacteriophages, and established their presence in human mitochondrial DNA. He identified three of the thirteen proteins encoded in human mitochondrial DNA and established details of the modified genetic code in human mitochondria. He also discovered the two eponymous protein sequence motifs involved in binding nucleotides in a wide range of proteins. They are the most widely dispersed sequence motifs in the entire biological kingdom.

In Cambridge, he developed his interest in how energy in food is transferred, in the mitochondria inside the cells that constitute our bodies, into the molecule ATP (or adenosine triphosphate), the energy currency of life. In 1982, he defined the basic threefold repeated structural fold that defines the 53 members of the family of mitochondrial transport proteins in humans, amongst them the protein that transports ATP, made in the mitochondrion, into the cellular cytoplasm thereby making it available as a source of energy for biological functions such as replication of DNA, RNA and proteins, and the functioning of muscles and the brain. In collaboration with F. Palmieri, he went on to contribute to the identification of the biochemical functions of fifteen members of this family, including the aspartate-glutamate exchanger where human mutations are associated with type II citrullinemia.

In 1994, his work on the complex molecular machine in the mitochondria, known as the ATP synthase, led to the realisation that the energy released by the oxidation (controlled burning) of dietary sugars and fats is coupled by a mechanical rotary mechanism to generate the 60 kg of ATP that each of us makes daily to sustain our lives. This work led to the award of the Nobel Prize in Chemistry in 1997. In the 1990s, he also defined the protein composition and the localisation of the proteins in another huge molecular assembly in mitochondria, known as complex I, which is also involved in biological energy conversion, thereby providing essential foundations for more recent investigations by colleagues on its structure and function.

In 1998, he was appointed Director of the MRC Dunn Human Nutrition Unit in Cambridge, which became the MRC Mitochondrial Biology Unit in 2008. Since 2013 he has been Director Emeritus. Here he continues to delve deeper into the fundamental basis of energy conversion in biology, and works to use that knowledge for medical benefit. He is a Fellow of the Royal Society, and in 2012, he received its Copley Medal, the UK’s highest scientific accolade. He is also a Fellow of the Academy of Medical Sciences, a Fellow of Sidney Sussex College, Cambridge, an Honorary Fellow of St Catherine’s College, Oxford, a Foreign Member of L’Accademia Nazionale dei Lincei, of the Royal Netherlands Academy of Arts and Sciences, and of The Royal Society of New Zealand, and a Foreign Associate of the US National Academy of Sciences.

John Walker

University of Cambridge, UK

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 the Co-Chair of the German Metabolic Society. He is also 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.

Johannes Häberle

University Children Hospital Zürich, University of Zürich, Switzerland

Barbara Yu

Barbara believes strongly in the long-term vision of finding a cure for citrin deficiency by bringing together world leading experts to work collaboratively on it, and to provide support for patients globally with this rare condition. It is with such belief that she co-founded Citrin Foundation with her husband Yen How Tai. Together, they have provided all the funding for the Foundation.

Barbara Yu is also the co-founder and co-CEO of YH2 Capital, an investment firm that adopts a long-term investment approach. The firm’s investment return has constantly outperformed the market since its inception.

Prior to founding YH2 Capital, Barbara was the Head of Asia and Partner of Eton Park Capital Management from 2006 to 2010 and was responsible for Eton Park’s public and private investments in Asia. In her role, Barbara founded, built and managed the Asia investment business of Eton Park since its inception in 2006.

Prior to joining Eton Park in 2006, Barbara spent five years at Goldman Sachs in Hong Kong where she rose to the position of the Head of the firm’s Principal Strategies Group in the Asia Pacific region. The Group encompassed the proprietary investing business of the equities division at Goldman. Prior to joining Goldman Sachs, Barbara worked at Morgan Stanley in New York and Hong Kong, where she focused on mergers, acquisitions and restructuring.

Barbara graduated from Magdalene College, Cambridge University, with a BA in Law, double first-class honors. Barbara was awarded the N. Diaz Scholarship for Law and Norton Rose Prize for Commercial Law. She was also a Jardine Scholar which provided a full scholarship for her undergraduate study.

Barbara Yu

Citrin Foundation, UK

Yen How Tai

Yen How Tai is the co-founder, co-CEO, and CIO of YH2 Capital, an investment firm that adopts a long-term investment approach. Prior to founding YH2 Capital, Yen was an entrepreneur and investor. In 1999, he founded an online real estate company and grew it to be the biggest online property business in Hong Kong. After selling the business, Yen branched out into real estate investment and development in Shanghai, Beijing, Hong Kong and Singapore.

Before becoming an entrepreneur, Yen worked at Investor AB’s private equity arm in Asia. Yen started his career as a management consultant at McKinsey & Company’s in Greater China office, where he advised governments and leading multinational corporations in China, Japan and Southeast Asia, in the telecommunications, consumer products, information technology, government policies and retail sectors.

Yen graduated from Harvard University with a BA in Economics. Yen was an ASEAN Scholar.

Yen How Tai

Citrin Foundation, UK

Day 1 Speakers

(Speakers are listed in the order of their scheduled presentations in the program)

Edmund Kunji

Professor Edmund Kunji holds a PhD in Mathematics and Natural Sciences from the University of Groningen, The Netherlands. He carried out his post-doctoral studies in the group of Dr Richard Henderson at the MRC Laboratory of Molecular Biology, Cambridge. Since 2000, he is a programme leader at the MRC Mitochondrial Biology Unit, University of Cambridge, where he works with his team on the role of mitochondrial transport proteins in the translocation of metabolites, cofactors and inorganic ions across the mitochondrial inner membrane. Since 2019, he is Professor of Biophysics in Clinical Neurosciences of the University of Cambridge.

Edmund Kunji

University of Cambridge, UK

Sotiria Tavoulari

Dr Sotiria Tavoulari is a Senior Research Associate at the Mitochondrial Biology Unit, specialising in molecular mechanisms of transport across biological membranes and the involvement of transport processes in human pathophysiology. Originally from Greece, Dr Tavoulari received a BSc in Chemistry, a MSc in Biotechnology and a PhD in Biological Chemistry from the University of Ioannina before moving to Yale University, USA as a postdoctoral Fellow. There, she studied structure/function relationships and conformational dynamics of neurotransmitter transporters and elucidated mechanisms of substrate transport and the inhibition by psychoactive drugs. In 2015, she moved to the United Kingdom and has since worked at the MRC, Mitochondrial Biology Unit on mitochondrial transport processes central to human metabolism, their connection to human diseases and their use as drug targets. Dr Tavoulari is currently investigating molecular mechanisms of metabolite transport in mitochondria and has a particular interest in understanding how dysfunction of mitochondrial transport processes leads to human diseases in order to develop therapeutic strategies. She has recently characterised the mitochondrial pyruvate carrier (MPC) complex, a protein emerging as a drug target for non-alcoholic steatohepatitis, diabetes and metabolically dependent cancers. Dr Tavoulari has been studying the interactions of MPC with medically-relevant small molecule drugs and has been developing more potent ones. As a major focus, Dr Tavoulari is also studying the molecular and cellular mechanisms underlying Citrin Deficiency, a genetic disorder caused by defects in the mitochondrial aspartate/glutamate antiporter (citrin).

Sotiria Tavoulari

University of Cambridge, UK

Marc Hellerstein

Dr. Hellerstein is Professor of Human Nutrition at the University of California, Berkeley, where he occupies an Endowed Chair (Dr. Robert C. and Veronica Atkins Chair). He is also Professor of Endocrinology, Metabolism and Nutrition in the Department of Medicine at the University of California at San Francisco, where he ran the diabetes clinic at SF General Hospital for 25 years. Dr. Hellerstein’s medical training was at Yale Medical School and he completed a PhD at the Massachusetts Institute of Technology, in addition to medical training in Internal Medicine and Endocrinology and Metabolism.

Dr. Hellerstein’s major research interest has been the measurement in vivo of metabolic fluxes through pathways critical to health and disease, as biomarkers for understanding metabolic control and its disorders, including applications in drug development and clinical diagnostics. This research has resulted in over 330 publications, 80 issued patents and participation on many editorial boards and as an advisor to NASA. Dr. Hellerstein co-founded a medical diagnostics and drug development biotech company, KineMed, Inc., in 2001 and a muscle diagnostic company, Myo Corps, Inc. in 2023.

By combining powerful mass spectrometric technology with insights into the mathematical footprint of metabolic flux in complex networks, his group has quantified in humans many metabolic processes that could not previously be studied. Methodologic advances from the Hellerstein lab include Mass Isotopomer Distribution Analysis (MIDA), the “equation for polymerization biosynthesis”; heavy water labeling for protein synthesis, including Dynamic Proteomics for measuring flux rates of proteins across the proteome; cell proliferation and turnover rates by metabolic labeling of newly replicated DNA with heavy water or glucose; non-invasive probes of intracellular intermediary metabolic fluxes, or “virtual biopsies”, including hepatic fibrogenesis, muscle protein synthesis and brain myelination rates; muscle mass from a spot urine sample; and flux metabolomics using combinatorial measurements to infer global fluxes from heavy water labeling.

This work directly addresses the major challenge of the next generation of biomedical research: translating our advanced understanding of molecular components (reductionist knowledge) into the ability to control and predict functional outcomes in vivo (integrated understanding) in humans. His work continues to look for ways that dynamic systems measurements can have a fundamental impact on basic biology and human health. By measuring intracellular metabolic processes in vivo that potentially play a causal role in the pathogenesis or treatment of disease and that were not previously able to be studied, these techniques can answer questions where the hard clinical outcomes take years or decades to become apparent. This work at its core has always been centered on translational medicine by creating minimally invasive techniques for monitoring disease-causal pathways in humans.

Contributions to Science:

> 335 publications
23 Issued U.S. Patents; 55 Issued International Patents
H-index: 94; I10 index: 307 (56 since 2018); 36,893 citations (12,492 since 2018)

Link to publications: https://www.ncbi.nlm.nih.gov/myncbi/marc.hellerstein.1/bibliography/public/

Marc Hellerstein

University of California Berkeley, USA

Diana Stojanovski

Associate Professor Diana Stojanovski is a mitochondrial biologist located in the Department of Biochemistry and Pharmacology at the University of Melbourne and the Bio21 Institute. Dr Stojanovski obtained her PhD from La Trobe University in 2006 where she worked with Prof. Mike Ryan on the emerging topic of mitochondrial dynamics. In 2006, she moved to the University of Freiburg as an Alexander von Humboldt research fellow working with Prof. Nikolaus Pfanner on protein translocation systems in yeast mitochondria. Diana returned to La Trobe University in 2009 as an Australian post-doctoral fellow and in 2013 she was recruited to the University of Melbourne to start her independent research group.

The Stojanovski lab researches the molecular mechanisms underscoring mitochondrial diseases linked to fundamental mitochondrial pathways particularly protein biogenesis. The lab has made key discoveries pertaining to the TIM22 complex and carrier protein biogenesis and connections of this machinery to disease.

Diana Stojanovski

University of Melbourne, Australia

Charles Brenner

Dr. Charles Brenner is the Alfred E Mann Family Foundation Chair in Diabetes and Cancer Metabolism in the Department of Diabetes & Cancer Metabolism. His laboratory focuses on disturbances in nicotinamide adenine dinucleotide (NAD), the central catalyst of metabolism, in diseases and conditions of metabolic stress.

Among his most significant discoveries, he identified nicotinamide riboside as an unanticipated vitamin precursor of NAD. He also developed a quantitative metabolomic technology that allowed him to discover that the NAD system is disturbed by many diseases and conditions of metabolic stress including diabetes and cancer.

Specifically, Dr. Brenner and colleagues have found that in animal models of fatty liver, type 2 diabetes, diabetic and chemotherapeutic neuropathy, central brain injury, heart failure, postpartum and coronavirus infection, the NAD system is disturbed. In these models, provision of nicotinamide riboside is highly protective.

Dr. Brenner led the team that conducted the first clinical trial of nicotinamide riboside establishing safe oral availability and has participated in trials establishing safety and potential activities of nicotinamide riboside in clearance of liver fat and depression of common markers of inflammation. He continues to research how the NAD system is dysregulated as a function of postpartum, coronavirus infection, inflammatory conditions, diabesity and specific malignancies with the dual goals of defining mechanisms of biological regulation and developing safe preventative and therapeutic interventions for people.

Charles Brenner

City of Hope Hospital, USA

Nicola Brunetti-Pierri

Principal Investigator, Molecular Therapy Program Coordinator, Head of Translational Incubator at Telethon Institute of Genetics and Medicine

Professor, Department of Translational Medicine, University of Naples “Federico II’, Italy

Dr Nicola Brunetti-Pierri graduated in Medicine and trained in Paediatrics at University of Naples “Federico II”. He then moved to Baylor College of Medicine, Houston, TX, USA for a post-doctoral fellowship and for clinical training in Medical Genetic and Biochemical Genetics. He became assistant professor in the Department of Molecular and Human Genetics of Baylor College of Medicine and held this role until 2010 when he returned to Italy. As a physician-scientist his research goals are to elucidate the pathogenetic mechanisms and to develop new and more effective therapies for genetic diseases. He has defined the clinical phenotypes and identified the molecular bases of several genetic diseases (lathosterolosis, 1q21.1 deletion and duplication syndromes, FOXG1 duplication syndrome, blepharophimosis intellectual disability syndrome [BIS]). He developed proof-of-concept data supporting the efficacy of small molecule drugs for maple syrup urine disease, pyruvate dehydrogenase deficiency, urea cycle disorders, and Myhre syndrome. He has a long-standing interest in liver-directed gene therapy for inborn errors of metabolism, and has received awards from the American and the European society of gene and cell therapy (ASGCT and ESGCT). His research has been funded by the National Institute of Health and the European Research Council.

Nicola Brunetti-Pierri

Telethon Institute of Genetics and Medicine, Italy

Laura Contreras

Dr. Laura Contreras holds a PhD in Molecular Biology from the Autonomous University of Madrid (UAM, 2007). In her thesis, she researched the Ca²⁺ regulation of mitochondrial aspartate-glutamate carriers. She carried out her post-doctoral studies in the group of Prof. Pozzan at Padua University, on Ca²⁺ deregulation in Alzheimer`s disease models. Since 2012, she works with Prof. J Satrústegui and Dr. Araceli del Arco on the metabolic aspects of Ca²⁺ regulation of aspartate-glutamate carriers in physiological and pathological conditions. Since 2018, she is Assistant Professor for the Molecular Biology Department at the UAM.

Laura Contreras

Universidad Autónoma de Madrid, Spain

Toni Vuković

PhD Student, University Children Hospital Zürich, University of Zürich

I obtained my bachelor’s degree in Molecular Biology from the University of Zagreb in 2020, after which I moved to Zurich to pursue a master’s degree at ETH. I completed the program in 2022, conducting my thesis in the laboratory of Prof. Dr. Sc. Helmuth Gehart. My research focused on developing a novel drug screening system for colorectal, prostate, and lung tumor organoids. I remained in the same laboratory for a post-master research position, where I worked on the development of a fluorescence reporter activated by cell-cycle regulated proteins. In November 2022, I commenced my doctoral studies at the Children’s Hospital Zürich under the supervision of Johannes Häberle. My current research aims to establish and characterize robust in vitro models of citrin deficiency to investigate the interplay between metabolic pathways implicated in the disease. These disease-representative models will be used for therapeutic compound screening, with the goal of identifying candidates that may enhance metabolic function in individuals with citrin deficiency.

Toni Vuković

University Children Hospital Zürich, University of Zürich, Switzerland

Joe Carroll

Dr Joe Carroll completed his PhD and early postdoctoral work with Prof. David Ellar at Cambridge (Dept. of Biochemistry) investigating the insecticidal δ-endotoxin proteins produced by the bacterium Bacillus thuringiensis. He then worked on the mechanism of neuronal exocytosis with Dr Bazbek Davletov at the MRC Laboratory for Molecular Biology, before moving to his current position in the MRC Mitochondrial Biology Unit in 2000. Working in the group of Prof. John E. Walker, he has employed proteomic approaches to study the composition and assembly of the membrane bound multi-subunit enzymes, respiratory complex I and the ATP synthase. More recently he has applied proteomic methods to investigate a rat model of citrin deficiency.

Joe Carroll

University of Cambridge, UK

Giuseppe Fiermonte

Full Professor of Biochemistry, Department of Biosciences, Biotechnologies, and Biopharmaceutics, University of Bari, Italy

Prof. Giuseppe Fiermonte is an internationally recognized expert in mitochondrial bioenergetics, metabolism, and mitochondrial transporter deficiencies. His research has significantly advanced the understanding of mitochondrial carrier proteins, their physiological roles, and their involvement in human diseases.

Prof. Fiermonte has played a pivotal role in elucidating the molecular mechanisms underlying mitochondrial carrier deficiencies, including AGC1/2, glutamate, ornithine/citrulline, thiamine pyrophosphate, and UCP2 transporter defects. His work, published in leading journals such as Nature Genetics, Nature Metabolism, PNAS, and The New England Journal of Medicine, has provided critical insights into the metabolic consequences of these mutations.

More recently, he has been developing iPSC-derived 3D organoid models to investigate the pathophysiological roles of mitochondrial transporters in human genetic diseases and cancer, further bridging fundamental research with translational medicine.

Giuseppe Fiermonte

University of Bari, Italy

Alice Sowton

Dr. Alice Sowton completed her BA in Natural Sciences at the University of Cambridge, before being awarded a British Heart Foundation studentship to do a MRes in cardiovascular medicine and a PhD in metabolic physiology with Prof. Andrew Murray and Prof. Julian Griffin (now at The Rowett Institute) at Cambridge (Dept. Physiology, Development and Neuroscience). During her PhD she worked on interactions between hypoxia and lipid metabolism during the progression of obesity and type-2 diabetes. Since 2023, Dr. Sowton is a postdoctoral research associate at the MBU within Prof. Edmund Kunji’s group.

Alice Sowton

University of Cambridge, UK

Day 2 Speakers

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.

Gerald Schwank

University of Zürich, Switzerland

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).

Julien Baruteau

Great Ormond Street Hospital, University College London, UK

Jeremy Duffield

Jeremy Duffield, MD, PhD, FRCP, is the Chief Scientific Officer of Prime Medicine. He has many years of drug discovery experience at Vertex Pharmaceuticals and Biogen Inc. preceded by a distinguished career in academic medicine.

Prime Medicine is a clinical stage gene editing company, developing Prime Editors to treat patients with Chronic Granulomatous Disease. Prime Medicine is also developing Prime Editors to treat Wilson’s Disease, and cystic fibrosis.

Prior to joining Prime Medicine, Dr. Duffield held several leadership roles, with focus in the fields of human genetics, innate immunity and regenerative medicine. He served as Global Head of Human Biology at Vertex Pharmaceuticals and as Vice President of Business Development where he and his team played important roles in discovering and advancing candidates to clinical studies in rare diseases including cystic fibrosis, a1-antitrypsin deficiency, sickle cell disease, FSGS and muscular dystrophies. Several candidates are now approved therapies. He was instrumental in building Vertex Cell and Genetic Therapies.

At Biogen, Dr. Duffield served as Senior Research Fellow and Vice President with responsibilities in early research programs, as joint Head of Innate Immunity and Regenerative Medicine therapeutic area, and as Head of the Biogen Post-Doctoral program. There he contributed to advancing integrin inhibitors, TNF superfamily inhibitors and IRAK inhibitors to clinical evaluation for pulmonary fibrosis and autoimmune diseases.

Prior to joining the leadership at Biogen, Dr. Duffield had a distinguished academic career on the faculty at University of Washington and Harvard Medical School as Head of the National Institutes of Health/National Center for Advancing Translational Sciences/American Heart Association-funded Laboratory for Innate Immunity and Regeneration. His laboratory used contemporary genetic methods to study cell and molecular function in innate immune and vascular cells in disease. Inventions from the laboratory contributed to the creation of several biotech companies, two of which advanced candidates in late clinical trials. Additionally, Dr. Duffield practiced Internal Medicine and Nephrology at Massachusetts General Hospital until 2019.

Dr. Duffield served on NIH study sections, several company scientific advisory boards, is a member of the American Society of Clinical Investigation and received many scientific awards including the ASN-AHA Young Investigator Award and the NIH Early Career Investigator/Scholar Award.

Dr. Duffield received his B.A. and M.D. (B.M., B.Ch.) from Oxford University and a Ph.D. in Immunology from the University of Edinburgh in the laboratory of Sir John Savill.

Jeremy Duffield

Prime Medicine, USA

Benjamin Greener

Ben Greener currently serves as Vice President, Clinical Development at Arcturus Therapeutics, with oversight of their OTCD therapeutic mRNA program and past work on Arcturus saRNA vaccine programs. He has supported diverse programs across government, NGO, pharma, and biotech sectors in his previous positions in the CRO industry. Ben is a graduate of the Clinical Research and Development Fellowship at University of North Carolina, Chapel Hill, holds a Doctor of Pharmacy degree from University of California, San Francisco and Master of Science from University of California, San Diego.

Benjamin Greener

Arcturus Therapeutics, USA

Joseph A. Baur

Professor 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.

Joseph A. Baur

University of Pennsylvania, USA

Marc Prentki

Dr. Marc Prentki obtained his Ph.D from the University of Geneva. He is now a full professor in the Department of Nutrition at the University of Montreal after working as an assistant professor at the University of Pennsylvania and in Geneva. Dr. Prentki is an established investigator in the University of Montreal Hospital Research Center (CRCHUM) and he is the Founding director of the Montreal Diabetes Research Center (MDRC) that he initiated in 2004 with support from the Canada Foundation for Innovation. He is renowned for his work on metabolic diseases, particularly in the areas of diabetes, obesity and pancreatic beta cell biology, and in cancer cell metabolism. Dr. Prentki published ~190 papers (H index 100) describing different aspects of metabolism and signaling in relation to metabolic diseases and cancer. Dr. Prentki co-directed (Nature 2007) the first GWAS study of any complex disease that resulted in the identification of several type 2 diabetes genes. Recent work from his laboratory, that may be harnessed for citrin deficiency, includes the textbook discovery of glycerol-3-phosphatase (G3PP) in mammalian cells, a central player in the regulation of intermediary and energy metabolism. Using mouse and C. elegans models and in vitro cell models, his laboratory showed that G3PP acts as a glucose excess detoxification machine, and plays an important role in insulin and glucose homeostasis, the regulation of liver glucose and lipid metabolism, cancer cell metabolism and it may promote healthy aging.

Marc Prentki

Montreal Diabetes Research Center, CRCHUM, Canada

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.

Yukio Nagasaki

University of Tsukuba, Japan

Kimihiko Oishi

Dr. Kimihiko Oishi is a Professor and the Chair of the Department of Pediatrics at Jikei University School of Medicine.

He received his medical degree from Jikei University School of Medicine in Tokyo, Japan, followed by a Pediatrics residency at Jikei University Hospital. After his research fellowship in a molecular cardiology laboratory at Icahn School of Medicine at Mount Sinai in New York, USA, he completed his Pediatrics Residency and Medical Genetics Fellowship at Mount Sinai Hospital.

After completing his fellowship, he joined the faculty at Icahn School of Medicine at Mount Sinai as an attending physician for the Program for Inherited Metabolic Diseases Clinic with a special interest in the mechanism of disease and development of new therapies for inborn errors of metabolism (IEM). He was also appointed as an Assistant Professor for the Department of Genetics and Genomic Sciences and Department of Pediatrics.

Dr. Oishi is a recipient of the Urea Cycle Disorder Consortium Fellowship with a project of clinical and molecular characterization of citrin deficiency in the US. With his leadership, his team in Mount Sinai made the English version of Prof. Saheki’s citrin deficiency book available for the Citrin Foundation. With his clinical and basic science training background in Japan and the United States and Dr. Oishi has medical license and board certifications in pediatrics and clinical genetics in these two countries.

Kimihiko Oishi

Jikei University School of Medicine, Japan

Anu Suomalainen

Dr. Suomalainen, MD PhD, is professor of clinical molecular medicine and director of stem cells and metabolism research program at Faculty of Medicine, University of Helsinki. She is also a chief physician in the Helsinki University Hospital Finland. She is a member of Finnish Academy of Science and Letters, European Molecular Biology Organization EMBO and Academia Europaea. She has worked as a visiting scientist/postdoctoral researcher and visiting professor in Columbia University, NYC; McGill University QC Canada; and UC Berkeley, respectively. Her group focuses in metabolic signaling and mechanisms and therapy development for degenerative and mitochondrial diseases.

Anu Suomalainen

University of Helsinki, Finland

Kevin Mills

Professor Kevin Mills is an Honorary Clinical Scientist at Great Ormond Street Hospital (GOSH) and Head of the Translational Mass Spectrometry Research Group at the UCL Institute of Child Health. He obtained his degree in Biochemistry from Cardiff University in 1991, briefly working in industry before undertaking a PhD in rare diseases and in 2001 made a lecturer at the UCL Institute of Child Health at Great Ormond Street Hospital. His research group uses mainly the techniques of proteomic, metabolomic and lipidomic mass spectrometry. Our main research interest involves using these techniques to understand the disease mechanisms underlying childhood neurological and lysosomal storage diseases. However, he works closely with our sister hospital at the National Hospital of Neurology and Neuroscience, using our rare disease experience and systems, as models of more common diseases and vice versa for e.g. Alzheimer’s disease and Niemann Pick Type C. To date Kevin has over 200 publications and brought in excess of £15 million in grants since 2012.

Using a mixture of basic and translational science, we aim to understand the mechanisms of disease so we can attempt to design treatments and we do this using plasma, urine, CSF, tissue as well as cell models and iPSc derived cell derived from our patients. Our group is composed of a mixture of 15 clinical and non-clinical research fellows working side by side on basic as well as patient-driven, translational research which aims to establish rapid, sensitive methods to study, diagnose and monitor the treatment of patients from Great Ormond Street Hospital and National Hospital of Neurology and Neuroscience. Recently, our laboratory was involved in the government’s ‘Operation Moonshot’ and the development of a test for Covid 19 that is currently being trialled in the NHS.

Kevin Mills

University College London, UK

Yoichi Wada

<Education and Professional Experience>

March 2010: Graduated from Tohoku University School of Medicine (M.D.)
April 2010 – March 2012: Clinical Resident, Kurashiki Central Hospital
April 2012 – March 2015: Pediatric Resident, Kurashiki Central Hospital
April 2015 – March 2019: Ph.D. Program, Graduate School of Medicine, Tohoku University (Department of Pediatric Disease Biology)
April 2019 – September 2023: Assistant Professor, Department of Pediatrics, Tohoku University Hospital
September 2023 – December 2024: Visiting Fellow, Metabolic Medicine Branch, National Human Genome Research Institute, NIH (in the laboratory of Dr. Charles Venditti)
October 2024 – March 2025: Assistant Professor, Department of Pediatrics, Tohoku University Hospital
April 2025 – Present: Lecturer, Department of Medical Creation, SiRIUS (Institute for Research of Innovative Medical Science), Tohoku University; Concurrent Position: Department of Pediatrics, Tohoku University Hospital

<Qualifications>

Doctor of Philosophy (Ph.D. in Medicine)
Board-Certified Pediatrician / Pediatric Instructor
Board-Certified Clinical Geneticist

<Awards>

2012: Ivy Orator, Kurashiki Central Hospital
2019: Encouragement Award, Japanese Society for Inherited Metabolic Diseases (JSIMD)
2019: Travel Award, JSIMD
2019: Arakawa Memorial Award, Department of Pediatrics, Tohoku University
2023: Tohoku University Prominent Research Fellow
2023: Best Young Investigator Award, JSIMD
2023: Travel Award, Society for the Study of Inborn Errors of Metabolism (SSIEM)
2023: The JSPS Japanese Research Fellowship at NIH (KAITOKU-NIH)

Yoichi Wada

Tohoku University, Japan

Day 3 Speakers

Marshall Summar

Chief Executive Officer, Uncommon Cures

Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He is now the Chief Executive Officer of Uncommon Cures, LLC, a rare disease clinical trials company focused on physically consolidating trials and using innovative technology to reduce time and cost. From 2010 to 2022 at Children’s National, he led the Division of Genetics and Metabolism and founded the Rare Disease Institute, the first dedicated home for the clinical care of patients with genetic rare diseases and The National Organization for Rare Disorders first designated Rare Disease Clinical Center of Excellence. After 12 years at the helm, he stepped down in 2022 to run Uncommon Cures and work to improve the development of new therapies in the rare disease field. He served as Chair of the Board of Directors of the National Organization for Rare Disorders and is the past president of the Society for Inherited Metabolic Disorders. At NORD he was part of the effort that created digital registries for families and the NORD Clinical Centers of Excellence program. In 2022, Dr. Summar was awarded NORD’s Lifetime Achievement Award.

Dr. Summar’s research work involved basic discovery and development of devices, diagnostics, and treatments for patients with genetic rare conditions and adapting knowledge from rare diseases to mainstream medicine. This work has led to over 170 peer-reviewed publications. His work has resulted in new drugs in FDA clinical trials for patients with sickle cell anemia, congenital heart disease and premature birth. He has over 120 international patents. His laboratory is best known for its work in the rare diseases affecting nitrogen, ammonia, and amino acid metabolism centering on the urea cycle. Dr. Summar has also organized and led a number of international work groups to develop and publish standards of care and treatment for rare diseases. With Dr. Debra Regier and Dr. Paul Harris, he is currently leading a funded project to develop a new software platform for developing and housing practical clinical protocols for rare diseases called RareCap. He has built remote/telemedicine programs to reach patients currently without genetic care access.

Dr. Summar is board-certified in Pediatrics, Clinical Genetics, and Biochemical Genetics.

Specialties: Clinical Genetics, Biochemical Genetics, Rare Disease Clinical Trials, Molecular Genetic Research, Genetic-Environmental Interaction

Marshall Summar

Uncommon Cures, USA

Julian W März

Dr. Julian W. März, M.D., Ph.D., LL.M., J.S.D. has studied medicine, law, and bioethics at the Universities of Zurich, Oxford, Munich, Regensburg, and Passau, and the Institut d’Études Politiques (IEP) de Paris. He holds a master’s degree in economic law from the IEP de Paris (2016), a Ph.D. in Law from the University of Passau (2020), a Ph.D. in Bioethics from the University of Zurich (2023), and a Doctorate in Medicine from the University of Regensburg (2023). In addition, he holds the German State Diploma in Medicine (2023) and is licensed as a physician in Switzerland. His university studies have been funded by full scholarships from the German National Academic Foundation (Studienstiftung des deutschen Volkes).

Before joining the University of Zurich as a research fellow in October 2022, he has worked for the Division of Health Economics at the German Cancer Research Center (DKFZ) in Heidelberg, where he also wrote his doctoral thesis in medicine. In parallel, he has worked as research affiliate in pharmaceutical law for the Centre for Law, Medicine and Life Sciences of the University of Cambridge, and as lecturer in public health law at the IEP de Paris. Furthermore, he has worked as a trainee lawyer for the international law firms Cleary Gottlieb Steen & Hamilton LLP and Hogan Lovells LLP and as a trainee physician at the General Hospital of Luxembourg.

Julian is currently a research fellow of the University Research Priority Program (URPP) Innovative Therapies in Rare Diseases (ITINERARE) and the Institute of Biomedical Ethics and History of Medicine (IBME) at the Medical Faculty of the University of Zurich. In addition, he is lecturing in the fields of pharmaceutical law and medical ethics at the University of Zurich, the Zurich University of Applied Sciences (ZHAW), and the University of Geneva (UniGE). In October 2024, Julian was appointed as a member of the World Health Organization (WHO) Research Ethics Review Committee (ERC) for the 2024 – 2027 term. In parallel, he is acting as lead scientific advisor for the review and reform process of the Federal Law on the Genetic Testing of Humans (GUMG) by the Swiss federal government.

Julian’s main research interests lie in the areas of pharmaceutical law and research ethics, with a particular focus on cell and gene therapies, RNA-based therapeutics, and AI-enabled innovation.

Julian W März

University of Zurich, Switzerland

Jun Kido

- - - - 2006 Bachelor of Medicine, Kumamoto University School of Medicine (MD)
        
        2013 Graduate School of Medical Sciences, Kumamoto University (Ph.D)
        
        Contract Assistant Professor belong to Department of Pediatrics, Faculty of Life Sciences, Kumamoto University (from 2015- to 2018).
        
        Assistant Professor of Department of Department of Pediatrics, Faculty of Life Sciences, Kumamoto University (from 2018- to 2021).
        
        Associate Professor of Department of Pediatrics, Kumamoto University Hospital (from 2021 to 2023 June).
        
        Guest Researcher in University Children’s Hospital Zurich and Children’s Research Centre (from 2023 May to 2023 Dec)
        
        Contract Associate Professor of Department of Pediatrics, Kumamoto University (from 2024 Jan- to 2024 Feb)
        
        Associate Professor of Department of Pediatrics, Kumamoto University Hospital (from 2024 Mar- to 2024 June).
        
        Associate Professor of Department of Pediatrics, Kumamoto University (from 2024 July- to present).

Award

2016 Young Investigator Award from Japanease Society of Inherited Metabolic Disease
2016 Best Presentation Award from Kyushu Society of Pediatrics
2023 The Archibald Garrod Award 2023 from SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM)
2024 Investigator Award from Japanease Society of Pediatrics

Jun Kido

Kumamoto University, Japan

Chong Kun Cheon

Education and Training

- - - - Professor (2021-Present) Pusan National University Children’s Hospital, Yangsan, Korea
        
        Associate Professor (2016-2021) Pusan National University Children’s Hospital, Yangsan, Korea
        
        Research Fellow (2014-2016), Baylor College of Medicine, Houston, USA
        
        Assistant Professor (2009-2014), Pusan National University Children’s Hospital, Yangsan, Korea
        
        Resident & Clinical fellow (2004-2009): Asan Medical Center, Medical Genetics, Seoul, Korea
        
        Ph.D. (2011) University of Ulsan College of Medicine, Seoul, Korea
        
        M.S. (2008) Yonsei University College of Medicine, Seoul, Korea

Research Interest

Prof. Cheon is the Director of Pediatric Genetics, Department of Pediatrics, Pusan National University Children’s Hospital in Korea. Professor Cheon has a Broad Certification of Korean Society of Medical Genetics. From 2014 to 2016, he visited the department of Molecular and Human Genetics, Baylor College of Medicine in USA where he trained as a research fellow. He has over 15 years of clinical and research experience on the area of genetic disease and inborn errors of metabolic disease. He has been serving as the center director of the Gyeongnam Regional Rare Disease Center from 2019 to the present. He is currently a director of publication at the Korean Society of Medical Genetics and Genomics for three years. In addition, he is a general affairs director of the Korea Society of Inherited Metabolic Disease, and a President of the Interdisciplinary Society of Genetic & Genomic Medicine (ISGM) in Korea. Prof. Cheon’s experience is broad and encompasses teaching and clinical education, and extensive research in the topic of diagnosis and treatment of medical genetics which brought him Academic Awards

Chong Kun Cheon

Pusan National University School of Medicine, South Korea

Ljubica Caldovic

Professor of Pediatrics, Professor of Biochemistry and Molecular Medicine (Secondary)

How do proteins, nucleic acids, lipids and sugars come together to form cells, tissues and organisms? What guides the assembly of macromolecules and govern interactions among molecules that make living organisms? Do biological principles emerge from these chemical interactions? To find answers to these questions I have studied chemistry and biochemistry as an undergraduate student, molecular biology, genetics and biophysics both in graduate school and as a post-doc, and have been combining these disciplines throughout my scientific career. I chose to major in chemistry and biochemistry at the University of Belgrade because I wanted to know what living things were made of. I soon realized that understanding interactions among components of living organisms was even more interesting and exciting than their composition. This led me to study molecular biology and genetics in graduate school at the University of Minnesota. In graduate school, I studied the role of chromatin structure in the regulation of gene expression and overall organization of the cell nucleus by examining effects of chromatin insulators on expression of transgenes in zebrafish, Danio rerio. This led to realization that biological systems are complex systems with many interacting elements and refocused my research interests and projects to reflect my interest in experimental approaches for studying complex biological systems. I joined the lab of Professor Clare Woodward in the Biochemistry department of the University of Minnesota and worked on protein design because at that time, the study of protein folding and dynamics was the only area of biology with well established experimental methods to study a complex system such as the protein molecule as well as firm theoretical models of protein folding. During my second post-doc in the lab of Dr Mendel Tuchman I began to work on urea cycle disorders focus on nitrogen balance and the sensing mechanism of the nitrogen load.

Ljubica Caldovic

Children's National Hospital, USA

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