Scientific Program

Please find the scientific program below.

Day 1 – 9th June
Time Title Speaker
Session 1: Overview
(Co-chairs: Barbara Yu & John Walker)
8:30 The Strategic Roadmap to Solving Citrin Deficiency:
Innovative Approaches to Overcoming Rare Disease Challenges		 Barbara Yu & Yen How Tai
Citrin Foundation, UK & Singapore
8:55 Citrin Deficiency: Key Questions and Progress Towards Answers John Walker
University of Cambridge, UK
9:20 Challenges and Opportunities in Management of Citrin Deficiency:
A Clinician’s Perspective on Advancing Treatment Strategies		 Johannes Häberle
University Children’s Hospital Zürich, University of Zürich, Switzerland
9:45 Morning Break
Session 2: Biochemical Mechanisms & Pathogenesis
(Co-chairs: Edmund Kunji & Johannes Häberle)
10:10 The Structure and Transport Mechanism of Citrin Edmund Kunji
University of Cambridge, UK
10:30 Developing Cellular Models of Citrin Deficiency Sotiria Tavoulari
University of Cambridge, UK
10:50 Exploring Metabolic Flux Abnormalities in the Citrin-G3PDHm Double-Knockout Mouse Model of CD Using Novel Stable Isotope – Mass Spectrometric Methods Marc Hellerstein
University of California Berkeley, USA
11:20 Molecular Mechanisms Underscoring Citrin Biogenesis in Health and Disease Diana Stojanovski
University of Melbourne, Australia
11:50 Lunch + Photoshoot
13:20 Modeling, Characterization and Therapeutic Screening of Citrin Deficiency Toni Vuković
University Children Hospital Zürich, University of Zürich, Switzerland
13:50 Glycerol-3-Phosphate Activates ChREBP, FGF21 Transcription and Lipogenesis in CD Charles Brenner
City of Hope Hospital, USA
14:20 Differential Impact of Loss of Citrin or Aralar on Cell Metabolism Daniel Tennant
University of Birmingham, UK
14:50 Impaired Nuclear Glycogenolysis Affects Liver Homeostasis Nicola Brunetti-Pierri
Telethon Institute of Genetics and Medicine, Italy
15:20 Afternoon Break
Session 3: New Preclinical Models
(Co-chairs: Nicola Brunetti-Pierri & Stephen Strom)
15:50 Aralar Liver-Specific Knockout and Citrin Knockout Mouse:
A New Citrin Deficiency Model With No Aspartate-Glutamate Carriers in Liver Mitochondria		 Laura Contreras
Universidad Autónoma de Madrid, Spain
16:20 Characterisation of a Rat Model of Citrin Deficiency by Proteomics Joe Carroll
University of Cambridge, UK
16:50 Elucidating Citrin Deficiency Through iPSC-Derived Hepatocyte-Like Organoids and AGC2/AGC1 Rescue Strategies Giuseppe Fiermonte
University of Bari Aldo Moro, Italy
17:05 Animal Models of Citrin Deficiency: Perils, Pitfalls and Progress Alice Sowton
University of Cambridge, UK
17:20 Short Break
17:30 Poster Session + Refreshments
19:00 Conference Dinner
Day 2 – 10th June
Time Title Speaker
 Session 4: New Therapies Development I – Gene Therapy & mRNA Therapy
(Co-chairs: Cary Harding & Julien Baruteau)
9:00 Prime Editing Achieves Durable In Vivo Correction of Phenylketonuria and Citrullinemia Type I Gerald Schwank
University of Zürich, Switzerland
9:30 Messenger RNA Therapy for Liver Inherited Metabolic Diseases Julien Baruteau
Great Ormond Street Hospital, University College London, UK
10:00 Prime Editors to Treat Liver and Metabolic Diseases Jeremy Duffield
Prime Medicine, USA
10:30 Development Update of LUNAR®-OTC (ARCT-810) mRNA Therapy for OTCD Ben Greener
Arcturus Therapeutics, USA
11:00 Morning Break
 Session 5: New Therapies Development II – Small Molecules
(Co-chairs: Marc Hellerstein & Nicola Longo)
11:30 Redox Status and Metabolite Changes in Citrin Deficient Mice Joseph Baur
University of Pennsylvania, USA
12:00 Development of a Human Cellular Model and Targeting the Liver Glycerol Shunt for Citrin Deficiency Marc Prentki
Montreal Diabetes Research Center, CRCHUM, Canada
12:30 Triheptanoin for Citrin Deficiency: A Pilot Study Evaluating Safety and Exploratory Efficacy Kimihiko Oishi
The Jikei University School of Medicine, Japan
13:00 Lunch
 Session 6: Novel Diagnostic and Bioprofiling Methods
(Co-chairs: Ljubica Caldovic & Nancy Chien)
14:20 Mitochondrial Disease Pathophysiology Reveals Tools for Diagnosis and Treatment
(Virtual Lecture)		 Anu Suomalainen
University of Helsinki, Finland
14:50 Can AI and Machine Learning with Biomarker Panels Improve the Diagnosis of Citrin Deficiency? Kevin Mills
Great Ormond Street Institute of Child Health, University College London , UK
15:20 Proteomic Analysis as a Novel Tool for Diagnosis and Screening of Citrin Deficiency Yoichi Wada
Tohoku University Hospital , Japan
16:30  Social Activities
18:00 Refreshments + Dinner
Day 3 – 11th June
Time Title Speaker
Session 7: Clinical Trial Readiness
(Co-chairs: Marshall Summar & Spyros Batzios)
8:30 Modern Rare Disease Clinical Trial Design and Execution Marshall Summar
Uncommon Cures, USA
9:00 Gene Therapy Trials in Rare Diseases: Navigating Regulatory Challenges Julian W März
University of Zürich, Switzerland
9:30 Assessing the Financial Viability of Novel Therapies for Rare Diseases Barbara Yu
Citrin Foundation, UK & Singapore
09:50 Morning Break
Session 8: Natural History: Heterogenicity, Genetics and Environment
(Co-chairs: Jaya Ganesh & Kimihiko Oishi)
10:05 The Status of Adult Patients with Citrin Deficiency in Japan Jun Kido
Kumamoto University, Japan
10:35 A Korean Citrin Deficiency Cohort Chong Kun Cheon
Pusan National University Children’s Hospital, South Korea
10:50 Citrin and Aralar – One Function, Two Expression Patterns and Evolutionary Histories Ljubica Caldovic
Children’s National Hospital, USA
11:10 Early Dietary Intervention in Citrin Deficiency:
Focus on MCT Formula and Japanese Clinical Experience		 Yoko Nakajima
Fujita Health University School of Medicine, Japan
11:35 Short Break
Session 9: New Frontier
(Co-chairs: Barbara Yu & Kevin Mills)
11:50 AI-Driven Drug Repurposing and Biomedical Discovery:
Deciphering Complex Data to Advance Rare Disease Research (Virtual Lecture)		 Marinka Zitnik
Harvard University, USA
12:15 Discussion
Flash Talks
(Co-chairs: Chong Kun Cheon & Diana Stojanovski)
12:30 Flash Talks (6 separate talks, 5 mins each) Multiple Speakers (TBD)
13:00 Closing Remarks
13:05 Lunch
14:30 End of Symposium