Join Us for the One-Day International CTX Workshop Series
On behalf of the CTX Alliance and the organizing committee, it is our pleasure to invite you to the workshops exclusively dedicated to cerebrotendinous xanthomatosis (CTX). Following the success of the first-ever CTX International Scientific Meeting held in Jerusalem in August 2023, the CTX Alliance is hosting this one-day workshop to build on critical collaborations and advance CTX research and patient care. It is our intention to make attending this satellite CTX meeting a convenient and educational opportunity for those already attending the ICIEM. Click here for the meeting agenda and free registration to attend the workshops. The overarching goal of the CTX International Workshop Series is to catalyze global research and clinical collaborations for CTX, advancing our knowledge to improve outcomes for CTX patients and their families. We are honored and excited to provide this opportunity to foster international collaboration for this rare disease.
The International Network for Fatty Acid Oxidation Research and Management, INFORM is recognized as the premier meeting in the world for the treatment of fatty acid oxidation disorders. Collaborate face-to-face with international experts, presenting state of the art research, and sharing best practices.
This year’s keynote speaker will be Seiji Yamaguchi, MD; presenting on The History of FAODs: Contributions from a Japanese Research Group
Our Plenary Session will focus on:
- Neuropathy Issues / Pathophysiologist and Treatment of Neuronopathy
- Dicarboxylic acid oxidation in mitochondria and peroxisomes
- Riboflavin / Coenzyme / Basic Science
- FAOD Guidelines
The INFORM Meeting is broad based, bridges clinical and research issues, and is proud to include patients and patient advocates.
We are proud to announce the INFORM meeting will be taking place on August 31st & September 1st in Kyoto, Japan at the Kyoto Brighton Hotel, with significant new research and best practices on the horizon for FAODs.
For more information, please visit our annual meeting page.
Advancements in Understanding: Global Perspectives and Innovations in Urea Cycle Disorders
September 1-2, 2025
Join us for the 6th International Symposium on Urea Cycle Disorders. The scientific symposium will provide a forum for international researchers, clinicians, trainees and patients’ families to share and discuss research in UCD. The overall objective of the symposium is to consider emerging therapeutic options, compare treatment strategies, catalyze innovative collaborations, challenge existing paradigms, and stimulate advancement and acceleration of new approaches to therapy and clinical care for UCD.
Trainees and junior faculty will have an opportunity to present their research and interact with international leaders in the field, producing the next generation of investigators in UCD and cementing international bridges of collaboration.
Schedule of Events and Highlights:
September 1, 2025
- Welcome Reception: Network and review posters in an interactive setting
September 2, 2025
- Meet the Professor Breakfast: Trainees and junior investigators will have an opportunity to meet in small groups with luminaries in the field to connect and discuss UCD related topics of interest.
- Symposium Sessions: A distinguished group of internationally renowned clinicians and scientists involved in the field of UCDs will discuss the latest developments in the areas of:
- Disease Models and Mechanisms
- From Phenotypic Diversity to Personalized Medicine
- Innovative vs Established Therapies: Advantages and Limitations
- Challenges of Newborn Screening for UCDs
- Poster Session: This session will provide a venue to highlight recent, high-quality scientific findings and serve as a nexus for fostering international collaborations, especially for early career investigators.
- Networking: 265 senior and junior investigators, clinicians, researchers, patient advocates, and industry members attended the last in-person symposium; we are planning on the same level of participation in 2025.
Organizers:
- Urea Cycle Disorders Consortium (UCDC)
- European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD)
- Japanese Society for Inborn Metabolic Disorders (JSIMD)
- National Urea Cycle Disorders Foundation (NUCDF)
- Citrin Foundation (CF)
Previous Symposia:
This 6th international symposium on UCD continues and expands on the tradition established by pioneers in the field. Previous symposia have been held in Vienna (1997), Sydney (2003), La Jolla (2009), Barcelona (2013), and virtually (2021).
Registration:
For details on registration and abstract submission, please visit our official page.
Model organisms including mice, zebrafish, Drosophila, C. elegans, and yeast have been indispensable tools for decoding the complexity of metabolism and its disruption in inherited metabolic disorders. From pinpointing enzyme deficiencies in yeast to unravelling organ-specific metabolic regulation in mice, flies and zebrafish, these models bridge the gap between gene function and systemic physiology. Their use has illuminated fundamental mechanisms of metabolic homeostasis and revealed novel therapeutic targets, propelling the field of IMD research toward precise, mechanism-based interventions.
In this symposium, we showcase cutting-edge research using model organisms to illuminate the mechanisms and treatment of inherited metabolic disorders (IMDs).
Join leading experts in model organism genetics and functional genomics for a dynamic series of presentations, held in conjunction with the ICIEM program.
Click here for free registration - we look forward to seeing you in Kyoto this September!
Co-convenors: Dr Travis Johnson (La Trobe University, Australia), A/Prof Matthew Piper (Monash University, Australia)
CDG Satellite Symposium
Date: The 2nd, September (Tuesday)
Time: 9:00 AM - 12:40 PM
Venue: Room 4 (Room B-2), Kyoto International Conference Center
We are pleased to invite you to the upcoming CDG Satellite Symposium, which will take place as outlined above.
Anyone registered for the main conference is welcome to attend without additional registration.
This session will provide a comprehensive overview of Congenital Disorders of Glycosylation (CDG), covering basic research, diagnosis, and treatment. The meeting will conclude with a roundtable discussion featuring leading experts from the U.S. and Japan, focusing on current practices and challenges in CDG diagnosis and therapy.
We warmly welcome all those interested in CDG to join us for this engaging and informative session.
Organizer of CDG Satellite Symposium
Eva Morava, Yoshiko Murakami, Junpei Tanigawa
ICIEM2025 President
Kimitoshi Nakamura
CDG Program
CDG Satellite Symposium: Tuesday, September 2, 2025.
Symposium Schedule: Each speaker is allotted 15 minutes for their presentation, followed by a 5-minute discussion.
| Speaker | Affiliation | Title |
|---|---|---|
| 9:00 - 10:20: Chair Eva Morava & Taroh Kinoshita | ||
| 1/Peter McWilliams | Glycomine, Inc. USA | Incidence and Prevalence of Phosphomannomutase 2-Congenital Disorder of Glycosylation: Past, Present, and Future |
| 2/Hudson Freeze: | Sanford Burnham Prebys Medical Discovery Institute, USA. | Pathogenic mutations define new, ultra-rare Congenital Disorders of Glycosylation |
| 3/Tamas Kozicz: | Icahn School of Medicine at Mount Sinai, USA | Deciphering the Neurological Puzzle in ALG13-CDG Through Cortical Organoid Modeling. |
| 4/Silvia Radenkovic | UMC Utrecht, The Netherlands | Mitochondrial dysfunction is a driver of cardiac complications in PGM1-CDG with implications for therapy |
| 10:20 - 10:40: Break | ||
| 10:40 - 12:00: Chair Hudson Freeze & Yoshiko Murakami | ||
| 5/Eva Morava: | Icahn School of Medicine at Mount Sinai, USA | NAD precursors as a potential supportive treatment in DHDDS-CDG |
| 6/Mariko Taniguchi-Ikeda | Kochi Medical School, Kochi University, Japan | Development of Therapeutic Strategies for Fukuyama Congenital Muscular Dystrophy |
| 7/Tadashi Suzuki | RIKEN Pioneering Research Institute (PRI), Japan | Toward Finding a Cure for NGLY1 Deficiency |
| 8/Yoshiko Murakami: | Research Institute for microbial diseases (RIMD), The University of Osaka, Japan | Therapeutic Potential of Gene Therapy for Inherited GPI Deficiencies |
| 12:00 - 12:40: Round Table Discussion (Topic: CDG Diagnosis & Treatment) Chair Eva Morava, Yoshiko Murakami, Junpei Tanigawa | ||
| Additional speakers; | ||
| Taroh Kinoshita | Center for Infectious Disease Education and Research (CiDER), The University of Osaka, Japan | |
| Yoshinao Wada | Osaka Women's and Children's Hospital, Japan | |
| Nobuhiko Okamoto | Osaka Women's and Children's Hospital, Japan | |
| Junpei Tanigawa | Graduate School of Medicine, The University of Osaka, Japan | |