Scientific Program

Day 1 - 18th September

Monday, 18th September 2023
Time	Speaker	Title
Session 1 – Overview (Co-Chairs: Barbara Yu, Yen How Tai)
9:00	Barbara Yu & Yen How Tai Citrin Foundation	Opening Speech
9:40	John Walker (Nobel Laureate) The University of Cambridge, UK	Keynote Speech – Citrin Deficiency: the Questions and the Paths to Answers
10:20	Johannes Häberle University Children’s Hospital Zürich, University of Zürich, Switzerland	The linkage of biochemistry and pathophysiology of citrin deficiency to clinical presentations, current research landscape and unanswered questions
10:50	Morning Break
11:20	Hannele Yki-Järvinen University of Helsinki, Finland	Citrin Deficiency Associated Liver Disease (CDALD) in Adults, Pathophysiology and Potential Therapeutic Implications
Session 2 – Developments in the Basic Scientific Understanding of Citrin Deficiency (Chair: John Walker)
11:50	Sotiria Tavoulari The University of Cambridge, UK	Development of cellular models to elucidate pathogenic mechanisms in citrin deficiency
12:30	Diana Stojanovski The University of Melbourne, Australia	The molecular mechanisms of Citrin biogenesis in health and disease
13:00	Lunch + Photoshoot
14:15	Georgios Makris University Children’s Hospital Zürich, University of Zürich, Switzerland	Biochemical, cellular and functional methods for studies of citrin deficiency
Session 3 – Novel Therapies I – Protein Replacement & Gene Therapies (Chair: Johannes Häberle)
14:35	Laura Contreras Universidad Autónoma de Madrid, Spain	Evaluation of aralar as citrin replacement: exogenous aralar partially recovers MAS activity in citrin KO mitochondria
15:15	Gerald Schwank University of Zürich, Switzerland	Correcting metabolic liver diseases by in vivo base- and prime editing
15:45	Julien Baruteau Great Ormond Street Institute of Child Health, University College London, UK	Messenger RNA therapy for liver inherited metabolic diseases
16:05	Poster Session
18:05	Evening Break
19:30	Conference Dinner

Day 2 - 19th September

Tuesday, 19th September 2023
Time	Speaker	Title
Session 4 – Novel Diagnostic Tools & Center Initiatives (Chair: Barbara Yu)
9:00	Kimitoshi Nakamura Kumamoto University, Japan	Establishing early diagnosis and long-term follow-up for CD with management guidelines
9:40	Johannes Häberle University Children’s Hospital Zürich, University of Zürich, Switzerland	Quantification of the urea cycle flux and biomarker detection as novel diagnostic tools for citrin deficiency
10:10	Nicola Longo University of Utah, USA	Identification of Citrin Deficiency by Newborn Screening in Utah
10:30	Morning Break
Session 5 – Emerging Clinical Evidence on Citrin Deficiency (Chair: Robin Lachmann)
11:00	Ituro Inoue National Institute of Genetics, Japan	Lessons from liver tissues of CTLN2 patients
11:30	Masahide Yazaki Shinshu University, Japan	Therapeutic Experiences including LOLA for CTLN2 Patients
12:00	Kimihiko Oishi The Jikei University School of Medicine, Japan	Clinical Biochemical Characteristics of Citrin Deficiency in Japan
12:30	Shirou Matsumoto Kumamoto University, Japan	Clinical trial in single center: Treatment with L-carnitine, MCT oil and Amino acids for Citrin Deficiency
12:50		Announcement
13:00	Lunch
14:00	Marc Hellerstein University of California at Berkeley, USA	Metabolic Pathogenesis of CD: Applying New Stable Isotope-Mass Spectrometric Flux Measurements Combined with Innovative Tools to Manipulate Cytosolic Redox
Session 6 – Novel Therapies II – Development of Therapeutic Interventions for Citrin Deficiency (Chair: Edmund Kunji)
14:30	Paolo Martini Moderna, Inc., USA	Messenger RNA therapy is a platform therapeutic for the treatment of Rare Genetic Disorders
15:00	Joseph Baur University of Pennsylvania, USA	Modulating NAD+ Availability in Mice with Citrin Deficiency
15:30	Short Break
15:40	Yukio Nagasaki University of Tsukuba, Japan	Innovations in Amino Acid donors: Design and implementation using amphiphilic block copolymer micelles
16:10	Marc Prentki Montreal Diabetes Research Center, CRCHUM, Canada	Targeting liver glycerol-3-phosphate phosphatase and the glycerol shunt for citrin deficiency
16:30	Afternoon Break
Session 7 – Global Insights on Citrin Deficiency and Other Relevant Inborn Errors of Metabolism (Chair: Nicola Longo)
17:00	Saikat Santra Birmingham Women’s and Children’s NHS Foundation Trust, UK	Variation in the FTTDCD Phase of Citrin Deficiency in Two Ethnic Groups in the UK
17:20	Robin Lachmann University College London Hospitals NHS Foundation Trust, UK	Citrin Deficiency and other UCDs in Adults
17:40	Ljubica Caldovic Children’s National Hospital, USA	Transcriptional regulation of citrin gene: A datamining approach
18:00	Alice Sowton The University of Cambridge, UK	Presentation by the winner of the poster walk
18:15	Nguyen Thi Mai Huong National Children’s Hospital Hanoi. Vietnam	Presentation by the winner of the poster walk
18:30	John Walker The University of Cambridge, UK	Closing remarks
18:35	Evening Break
19:30	Gala Dinner (Speeches: Barbara Yu & Yen How Tai)

Poster Presentation

Presenter	Title
Araceli del ARCO Universidad Autónoma de Madrid, Spain	Citrin replacement with Aralar: dissecting Citrin-Aralar interactions
Eri IMAGAWA The Jikei University School of Medicine, Japan	A new drug trial for citrin deficiency with triheptanoin, a medium-odd-chain heptanoic acids (C7), using a mouse model
Bosco JOSE The University of Cambridge, UK	Development and characterization of cellular Citrin Deficiency models
Jun KIDO Kumamoto University, Japan	Selected amino acids and acylcarnitines may effectively detect newborns with citrin deficiency in the newborn screening
Yuta KODA University of Tsukuba, Japan	Poly(amino acid)-Based Self-Assembling Polymer Drugs Enhancing the Efficacy of Chemotherapy by Continuous Release of Amino Acids
Li Eon KUEK Citrin Foundation	From Challenges to Solutions: Advancing Pre-clinical Models in Citrin Deficiency Research
NGUYEN Thanh Phuong National Institute of Genetics, Japan	Molecular relevance of citrullinemia type II and liver cancer
NGUYEN Thi Mai Huong National Children’s Hospital Hanoi, Vietnam	The mutation spectrum of the SLC25A13 Gene in Pediatric Cohort in Vietnam
Catherine PALMER The University of Melbourne, Australia	The molecular mechanisms of Citrin biogenesis in health and disease
Alice SOWTON The University of Cambridge, UK	Bioenergetic Profiling of Cellular Models of Citrin Deficiency
Toni VUKOVIC University Children’s Hospital Zürich, University of Zürich, Switzerland	Citrin knock-out HepaRG cells as a model for citrin deficiency