Program in Detail
Day 1 (December 5, Thur)
| Time | Program | ||
|---|---|---|---|
| 9:00-10:00 | Registration | ||
|
10:00-10:30 (30min) |
Opening Remark |
Jong-Hee Chae (Chair, Organizing Committee of 2024 International Joint Conference of KSMGG & EAUHGS) |
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| Welcome Message |
Hyun-Mee Ryu (President of Korean Society of Medical Genetics and Genomics (KSMGG)) Jong Kwan Jun (President, East Asian Union of Human Genetic Societies (EAUHGS)) |
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|
10:30-12:00 (90min) |
Presidential Symposium. Precision Medicine Revolution: Leveraging Collaborative Research for Genetic Breakthroughs Chairs: Jong Kwan Jun (Republic of Korea) / Hyun-Mee Ryu (Republic of Korea) |
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| 10:30-11:00 | My Journey on Mitchell Syndrome | Hyunglok Chung (Weill Cornell Medicine, Houston, USA) | |
| 11:00-11:30 | FBXW4 Mutations Induced Over-degradation of a Novel RNA Binding Protein CCT5 Disrupts the Skeletal Development | Hongyan Wang (Fudan University, China) | |
| 11:30-12:00 | Long Read Genomics Analyses for Rare Genetic Diseases | Naomichi Matsumoto (Yokohama City University, Japan) | |
|
12:00-13:00 (60min) |
Luncheon Symposium (Novartis) Chair: Jong-Hee Chae (Republic of Korea) |
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| 12:00-13:00 | Enhancing SMA Outcomes: Belgium’s Newborn Screening Journey and its Impact | Liesbeth De Waele (Norvatis, Belgium) | |
| 13:00-13:30 | Coffee Break | ||
|
13:30-15:20 (110min) |
KSMGG Education Session 1 (Korean) Cutting-edge Technologies in Genetic Diagnosis and Gene Editing Chair: Young-Mock Lee (Republic of Korea) -Room A- |
Symposium 1. Genetic Pathways to Hope: Emerging Landscape of Rare Disease Therapeutics Chair: Liesbeth De Waele (Belgium) -Room B- |
|
| 13:30-14:05 |
Diagnosis of Mosaic Mutations Using NGS Soohyun Seo (Seoul National University, Republic of Korea) |
13:30-14:00 |
Current Status and Clinical Trials of Fabagal® (Agalsidase Beta) in Patients with Fabry Disease Soojin Hwang (Asan Medical Center, Republic of Korea) |
| 14:05-14:40 |
The Utility of Whole Genome Sequencing Jiyoung Oh (Yonsei University College of Medicine, Republic of Korea) |
14:00-14:30 |
Long-term Efficacy of Gene Therapy for AADC Deficiency Including Patients with a Moderate Phenotype and Development of Diagnostic System Marina Mizobe (Jichi Medical University, Japan) |
| 14:40-15:20 |
Molecular Genetic Understanding of Gene Editing Technology Hyunji Lee (Korea University College of Medicine, Republic of Korea) |
14:30-15:00 |
A Novel Microglia-based Therapeutic Approach for Neurological Disorders Yong Jin Yoo (Korea University, Republic of Korea) |
| 15:00-15:20 | Q&A | ||
| 15:20-15:30 | Break | ||
|
15:30-17:30 (120min) |
KSMGG Education Session 2 (Korean) Oversight of Secondary Findings in Clinical Genome Sequencing Chair: Eul-Ju Seo (Republic of Korea) -Room A- |
Symposium 2. Next Generation Genomics: Cultivating Partnership with Rising Stars in East Asia Chair: Kenjiro Kosaki (Japan)/ Dong Hyun Cha (Republic of Korea) -Room B- |
|
| 15:30-16:00 |
Introduction to Secondary Findings Arising from Clinical Genome Sequencing Jisook Yim (Korea University College of Medicine, Republic of Korea) |
15:30-15:50 |
Comprehensive Analysis of Mycobacterium Tuberculosis Genomes Reveals Genetic Variations in Bacterial Virulence Akihiro Fujimoto (The University of Tokyo, Japan) |
| 15:50-16:10 |
Finding Cure for Fukuyama Muscular Dystrophy Mariko Taniguchi-Ikeda (Fujita Health University, Japan) |
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| 16:00-16:30 |
ELSI Issues Related to Secondary Findings of Genome Sequencing Hannah Kim (Yonsei University College of Medicine, Republic of Korea) |
16:10-16:30 |
Rare Types of Variants as Causes of Unique Inherited Eye Diseases Qingjiong Zhang (Sun Yat-sen University, China) |
| 16:30-16:50 |
The Evolutionary Landscape of Complex Diseases in East Asia Xiaowei Mao(Sichuan Provincial People's Hospital, China) |
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| 16:30-17:00 |
Proposal of Clinical Guidelines for Secondary Findings in Cardiovascular Disease Seung-Pyo Lee (Seoul National University, Republic of Korea) |
16:50-17:10 |
Contribution of Uniparental Disomy to Congenital Heart Disease in 3,869 Trios Nahyun Kong (Washington University in St. Louis, USA) |
| 17:10-17:30 |
De Novo Missense Variants in HDAC3 Leading to Epigenetic Machinery Dysfunction are Associated with a Variable Neurodevelopmental Disorder Chul-Hwan Lee (Seoul National University, Republic of Korea) |
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| 17:00-17:30 |
Proposal of Clinical Guidelines for Secondary Findings in Hereditary Cancer Yoo-Mi Kim (Chungnam National University College of Medicine, Republic of Korea) |
17:30-17:40 | Q&A |
| 18:00~ |
Welcome Dinner (*Invitation only) |
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Day 2 (December 6, Fri)
| Time | Program | ||
|---|---|---|---|
|
09:00-10:30 (90min) |
Symposium 3. Next-Generation Insights: Somatic Mutations as Key Drivers of Disease Chair: Akihiro Fujimoto (Japan) / Hoon-Chul Kang (Republic of Korea) -Room A- |
Symposium 4. Integrative Approaches to Complex Disease: Genetics, Proteomics, and Metabolic Regulation (Collaboration with KOGO) Chair: Soo-Heon Kwak (Republic of Korea) -Room B- |
|
| 09:00-09:30 |
Low-level Developmental Mosaicism of Driver Genes Predisposes Human Meningioma Sangwoo Kim (Yonsei University College of Medicine, Republic of Korea) |
09:00-09:30 |
The Genetic Landscape of Diabetes Genetics and Polygenic Risk Scores Soo-Heon Kwak (Seoul National University, Republic of Korea) |
| 09:30-10:00 |
Somatic Mutations in Aging and Neurodegenerative Disorders Eunjung Alice Lee (Harvard Medical School, USA) |
09:30-10:00 |
Using Proteomics and Genomics to Understand Complex Diseases and Identify Drug Targets Satoshi Yoshiji (McGill CERC in Genomic Medicine, Canada) |
| 10:00-10:30 |
Somatic Mosaic Variants in PIK3CA: Clinical Challenges in Overgrowth Disorders Jung Min Ko (Seoul National University, Republic of Korea) |
10:00-10:30 |
Functional Characterization and Metabolic Regulation of Genetic Variants of Diabetes Alfred Cheng Hu (Shanghai Jiao Tong University, China) |
| 10:30-10:40 | Break | ||
|
10:40-12:00 (80min) |
Symposium 5. Shining a Light on the Unknown: The Role of Data Sharing in Tackling Undiagnosed Diseases in East Asia Chair: Toshiki Takenouchi (Japan) / Jong-Hee Chae (Republic of Korea) -Room A- |
Symposium 6. Innovation in Genomics: Strategies for Fostering Growth and Success in the Industry Chair: Masaru Koido (Japan) / Chong Kun Cheon(Republic of Korea) -Room B- |
|
| 10:40-11:00 |
The Power of Shared Data: Lessons Learned Ni-Chung Lee (National Taiwan University Hospital, Taiwan) |
10:40-11:00 |
Leveraging Artificial intelligence for Genomic Variant Analysis in Rare Disease Diagnosis Hane Lee (3billion, Inc, Republic of Korea) |
| 11:00-11:20 |
Rapid Singleton Long-Read Sequencing Enhances Care for Critically Ill Thai Children Wuttichart Kamolvisit (Chulalongkorn University, Thailand) |
11:00-11:20 |
Understanding Cancer Genomics and Realizing Precision Medicine Through WGS June-Young Koh (incocras, Republic of Korea) |
| 11:20-11:40 |
RNA Seq Analysis and Targeted Long Read Sequencing to Unravel Complicated Splicing Abnormalities in Dystrophinopathy Mariko Okubo (National Center for Global Health and Medicine, Japan) |
11:20-11:40 |
200K Transcribed Enhancer Atlas Informs Conserved Regulatory Elements and Their Links to Complex Traits Masaru Koido (The University of Tokyo, Japan) |
| 11:40-12:00 |
Lessons from 6 years of Undiagnosed Disease Program in Korea: Insights and Future Direction Jong-Hee Chae (Seoul National University, Republic of Korea) |
11:40-12:00 |
Raising Awareness of Early Onset Genetic Diseases through Generalized Phenotype Screening of Newborns Jae Hwan Jang (Humanscape, Republic of Korea) |
| 12:00-12:10 | Break | ||
|
12:10-13:10 (60min) |
Luncheon Symposium (Astrazeneca) Chair: Yoon-Sok Chung(Republic of Korea) |
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| 12:10-13:10 | Transforming Lives in Patients with Hypophosphatasia | Sung Yoon Cho (Samsung Medical Center, Republic of Korea) | |
| 13:10-13:30 | Coffee Break | ||
|
13:30-15:00 (90min) |
Symposium 7. Oral Presentation 1 (Free paper) selected from submitted abstract Chair: Jungmin Choi (Republic of Korea) / Hyunglok Chung (USA) |
Symposium 8. Oral Presentation 2 (Free paper) selected from submitted abstract Chair: Woong Sun(Republic of Korea) / Eiji Nanba(Japan) |
|
| 13:30-13:40 |
Targeted Panel Sequencing of Human Aorta Tissue in a Single Center Biobank Reveals Undiagnosed Heritable Thoracic Aortic Disease Ha Lee (Ewha Womans University, Republic of Korea) |
13:30-13:40 |
Insights from Whole Genome Sequencing: Germline Findings May Contribute to Carcinogenesis in Off Tumors Eri Habano (Cancer Institute Hospital of the Japanese Foundation for Cancer Research, Japan) |
| 13:40-13:50 |
Contribution of Rare Coding Variants to Microcephaly in Individuals with Neurodevelopmental Disorders Jihoon Yoon (Seoul National University Hospital, Republic of Korea) |
13:40-13:50 |
How Can We Choose Appropriate Genome Profiling Tests? – Lessons from Real-world Data Analysis for Factors Influencing the Accuracy in Tissue-based CGP in Hiroshima Hiroaki Niitsu (Hiroshima University Hospital, Japan) |
| 13:50-14:00 |
Biallelic Variants in Consanguineous Families Causing Neurodevelopmental Disorders Tawfiq Froukh (Biotechnology and Genetic Engineering, Jordan) |
13:50-14:00 |
CWAS-Plus. Estimating Category-Wide Association of Rare Noncoding Variation From Whole-Genome Sequencing Data With Cell-Type-Specific Functional Data Yujin Kim (Korea University, Republic of Korea) |
| 14:00-14:10 |
De Novo RNU4-2 Variants are a Major Contributor to Unexplained Neurodevelopmental Disorders Taekeun Kim (Korea University College of Medicine, Republic of Korea) |
14:00-14:10 |
Rare Variant Phasing in Autosomal Recessive Disorders Using gnomAD Variant Co-occurrence Information Jaeryuk Kim (Asan Medical Center Childrens Hospital, Republic of Korea) |
| 14:10-14:20 |
Clinical Manifestations of GRIN-related Neurodevelopmental Disorders Seungbok Lee (Seoul National University Hospital, Republic of Korea) |
14:10-14:20 |
High-fidelity Long-read Sequencing of Korean Individuals Jun Kim (Chungnam National University, Republic of Korea) |
| 14:20-14:30 |
The Impact of Molecular Genetic Analysis on Pediatric Diabetes Mellitus in a Prospective Study Yoo-Mi Kim (Chungnam National University Sejong Hospital, Republic of Korea) |
14:20-14:30 |
An Analysis Of 35723 Blastocysts By PGT-A Reveals The Spectrum Of Various Types Of Mosaicism Across Female Age Minseo Jeon (CHA Biotech, Republic of Korea) |
| 14:30-14:40 |
Genetic Insights into Inborn Errors of Immunity from a Korean Single-Center Experience Hoon Seok Kim (Seoul St Marys Hospital, Republic of Korea) |
14:30-14:40 |
Role of C3a as a Diagnostic and Therapeutic Target in Fabry Disease with Implications for EMT and Fibrosis Control Hyosang Do (University of Ulsan College of Medicine, Republic of Korea) |
| 14:40-14:50 |
Improving Diagnosis and Care for Rare Diseases. A Collaborative Approach with Genome Sequencing and Genetic Counseling Soojin Hwang (Asan Medical Center, Republic of Korea) |
14:40-14:50 |
Implementing Genomic Medicine in Clinical Practice for Adults with Undiagnosed Rare Diseases Jaeso Cho (Seoul National University Bundang Hospital, Republic of Korea) |
| 14:50-15:00 |
Brain Somatic Variants in Pediatric Epilepsy Patients Ara Ko (Severance Hospital Yonsei University College of Medicine, Republic of Korea) |
14:50-15:00 |
Phase 1 Trial Result of EN001 to Evaluate Safety and Exploratory Efficacy in Charcot-Marie-Tooth Disease Type 1A and Duchenne Muscular Dystrophy Choongseob Oh (ENCell, Republic of Korea) |
| 15:00-15:20 | Break | ||
|
15:20-17:00 (100min) |
Symposium 9. Newborn Screening and Neonatal Genomics in the Era of Genomics Chair: Han-Wook Yoo (Republic of Korea) / Eunjung Alice Lee (USA) -Room A- |
Symposium 10. Comprehensive Insights into Prenatal & Perinatal Genomics Chair: Wuttichart Kamolvisit(Thailand) / Chan-Wook Park (Republic of Korea) -Room B- |
|
| 15:20-15:50 |
Comprehensive Carrier Screening in the Genomic Medicine Era Yiping Shen (Harvard Medical School, USA) |
15:20-15:50 |
Comprehensive Genomic Testing of Children, Babies and Fetuses with Suspected Genetic Disorders Kenjiro Kosaki (Keio University, Japan) |
| 15:50-16:10 |
Nationwide Network for Rapid Genomic Diagnosis of Sick Newborn Infants in Japan Toshiki Takenouchi (Okayama University, Japan) |
15:50-16:10 |
Application and Prospects of Long Read Sequencing to Preimplantation Genetic Testing Hiroki Kurahashi (Fujita Health University, Japan) |
| 16:10-16:30 |
NGS-based Sequencing for Newborn Screening Ni-Chung Lee (National Taiwan University Hospital, Taiwan) |
16:10-16:30 |
How Far Can we Reach in Genetic Testing of Embryos? Eun Jeong Yu (CHA Fertility Center, Republic of Korea) |
| 16:30-17:00 |
NBS Status in South Korea Jeongho Lee (Soonchunhyang University, Republic of Korea) |
16:30-16:50 |
Global Impact of NIPT: Paradigm Shift in Prenatal Screening and Insight of the Updated NIPT Hyun-Joo Seol (Kyunghee University, Republic of Korea) |
| 16:50-17:00 |
Panel Discussion |
16:50-17:00 |
Panel Discussion |
| 17:00-17:20 |
Awards Ceremony -Room B- |
Hyun-Mee Ryu (President of Korean Society of Medical Genetics and Genomics (KSMGG)) | |
| 17:20-17:30 |
Closing Remark -Room B- |
Jong Kwan Jun (President, East Asian Union of Human Genetic Societies (EAUHGS)) | |
| 18:00-20:00 |
Gala Dinner [ Venue : The K Hotel Gayageum Hall (2F) ] |
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