13th Conference of Undiagnosed Diseases Network International / 5-7 September, 2024, Seoul, Korea / Seoul National University Children's Hospital, CJ Hall

Program in Detail

Day 1 (September 5, Thu)
[Venue: CJ Hall]

Time Program
09:00-09:10
(10min)
Opening Remark Jong-Hee Chae (Host of UDNI, 2024 in Seoul, Korea)
Welcome Message Young-Tae Kim (Seoul National University Hospital President & CEO)
Eunhwa Choi (Head of the Child Cancer & Rare Disease Project)
Helene Cederroth (Founder of Wilhelm Foundation)
William A. Gahl (National Institutes of Health)
09:10-10:40
(90min)
Scientific Session 1. Unraveling Neurodevelopmental Disorders: Insights from Clinical Genomics

Chairs: Domenica Taruscio (Italy), Jong Hee Chae (Republic of Korea)

09:10-09:40 Genome Analysis toward Diagnosis and Mechanistic Understanding of Neurodevelopmental Disorders Murim Choi (Seoul National University, Republic of Korea)
09:40-10:00 One Gene – Many Faces: Pitfalls in Genematching Anita Rauch (University of Zurich, Switzerland)
10:00-10:20 Discovery of Novel Genes Causing Neurodevelopmental Disorders Suzuki Hisato (University of Tsukuba, Japan)
10:20-10:40 Transposable Elements as a Cause of Genetic Disorders and Somatic Mosaicism in Humans Eunjung Alice Lee (Harvard Medical School, USA)
10:40-11:00
(20min)
Break
11:00-12:30
(90min)
Scientific Session 2. New Hope in Rare Diseases Therapeutics

Chair: Jeong Hun Kim (Republic of Korea)

11:00-11:30 Treating the Untreatable. Lessons Bridging Undiagnosed Disease to Novel Therapies Joseph G. Gleeson (University of California, USA)
11:30-11:50 CRISPR-based Gene Editing Approaches Treat and Possibly Even Cure Genetic Hearing Loss Sang-Yeon Lee (Seoul National University, Republic of Korea)
11:50-12:10 Using CRISPR Up-regulation to Restore Dystrophin Expression in Duchenne Muscular Dystrophy (DMD) Monkol Lek (Yale University, USA)
12:10-12:30 Precise Gene Editing in Genetic Diseases Sangsu Bae (Seoul National University, Republic of Korea)
12:30-13:30
(60min)
Lunch
13:30-14:55
(85min)
Scientific Session 3. UDP initiatives in Asia-Pacific Region

Chair: Kenjiro Kosaki (Japan)

13:30-13:45 Don’t Miss VEXAS Syndrome (and what to do when you find it) Danica Donna Novacic (National Institutes of Health United States, USA)
13:45-13:55 The Undiagnosed Disease Network in Taiwan Ni-Chung Lee (National Taiwan University Hospital, Taiwan)
13:55-14:05 UDP in Thailand: From Patient Care to New Disease Gene Discoveries Vorasuk Shotelersuk (Chulaongkorn University, Thailand)
14:05-14:15 Promoting Research and Treatment for Undiagnosed and Rare Diseases in China Boya Yu (Hope for Rare Foundation, China)
14:15-14:25 Initiative on Rare and Undiagnosed Diseases: Ten Years of Experiences Kenjiro Kosaki (Keio University, Japan)
14:25-14:35 Korean Undiagnosed Diseases Program: Past, Present, and Future Soo Yeon Kim (Seoul National University, Republic of Korea)
14:35-14:45 Outcomes of a Clinically Integrated Multi-omic Rare Disease Program, RDNow, for Individuals Who Remain Undiagnosed after Clinical Genomic Sequencing Tiong Yang Tan (University of Melbourne, Australia)
14:45-14:55 Undiagnosed and Rare Diseases at the Tertiary Pediatric Center in Vietnam Can Thi Bich Ngoc (Vietnam National Children's Hospital, Vietnam)
14:55-15:35
(40min)
UDNI Champion's Talk
14:55-15:05 UDNI and Its Impact in Pakistan Salman Kirmani (Aga Khan University Hospital, Pakistan)
15:05-15:15 Lessons Learnt from Implementing Rare and Undiagnosed Disease Program in Ghana Samuel Wiafe (Rare Disease Ghana Initiative, Republic of Ghana)
15:15-15:25 African Rare Diseases Initiative and the National Network for Rare and Undiagnosed Diseases in the DR Congo Aime Lumaka (University of Kinshasa, Congo)
15:25-15:35 Rare Diseases Research in Mali: an Update Guida Landoure (Faculté de Médecine et d’Odontostomatologie /USTT-B, Republic of Mali)
15:35-15:50
(15min)
Break
15:50-17:30
(100min)
Scientific Session 4-1.
Oral Presentation (selected abstract)

Chair: Jangsup Moon (Republic of Korea)


-CJ Hall-

Scientific Session 4-2.
Korean Rare Disease Network: Bridging Gaps, Sharing Insights

Chair: Chong Kun Cheon (Republic of Korea)


-Cheil Jedang Hall-

15:50-16:00 Strategies for the Unsolved Cases from the Telethon Undiagnosed Disease Program 3.0
Vincenzo Nigro (TIGEM, Italy)
15:50-16:15 Regional Genetic Diagnosis Supporting Program in Korea

Chong Kun Cheon
(Pusan National University School of Medicine, Republic of Korea)
16:00-16:10 Learnings from Reanalysis of Genomic Data: The Indian Undiagnosed Diseases Program
Neha Garg (SIR Ganga Ram Hospital, India)
16:10-16:20 Undiagnosed Disease Programs in Two Turkish Settings: Rareboost and Istisna Projects
Ugur Ozbek (IBG, izmir biomedicine and genome center, Türkiye)
16:20-16:30 Optimizing Diagnostic Protocols through Translational Research for Undiagnosed Diseases
May Christine Malicdan (NHGRI, National Institutes of Health, United States)
16:15-16:40 Diagnosing Rare Diseases: The Impact of Functional Core Network

Seungbok Lee
(Seoul National University, Republic of Korea)
16:30-16:40 Clinically-Directed Panel-Agnostic Family-customised Deep Reanalysis Of Genomic Data Leads To Discovery Of Novel Ultra-Rare Genetic Skin Disorders
Siddharth Banka (University of Manchester, United Kingdom)
16:40-16:50 Using Multi-Scale Genomics to Associate Poorly Annotated Genes with Rare Diseases
Christina Johnny Canavati (The Hebrew University of Jerusalem, Israel)
16:50-17:00 Unveiling Mitochondrial Variants in Undiagnosed Rare Diseases through Integrative Genomics and Phenomics
Nahyun Kong (Washington University School of Medicine, United States)
16:40-17:05 Genetic Diagnosis Supporting Program in Korea

Man Jin Kim
(Seoul National University, Republic of Korea)
17:00-17:10 Structural Variants Calling in 13.585 Rare Disease Patients Short Read Genome Data: Results and Lessons
German Demidov (INSTITUTE of medical genetics and applied genomics, Germany)
17:10-17:20 Understanding the Effect of De Novo Mutations Modulating Transcription Termination in Rare Diseases
Yaroslav Kainov (King's College London, United Kingdom)
17:05-17:30 Raising Awareness of Childhood Rare Diseases through Generalized Phenotype Screening of Newborns

Jae Hwan Jang
(Humanscape, Republic of Korea)
17:20-17:30 Late C-Terminal Frameshift Variants in Gpkow are Associated with a Multisystemic X-Linked Disorder
Jung-Wan Mok (Baylor College of Medicine, United States)
18:00~ Welcome Dinner
(Venue : HW Convention Center)
*Wilhelm foundation courtesy

Day 2 (September 6, Fri)
[Venue: CJ Hall]

Time Program
08:40-10:40
(120min)
Scientific Session 5. Facilitating Collaborative Excellence in Rare Disease Research

Chair: Olaf Riess (Germany)

08:40-09:00 My Journey on Mitchell Syndrome Hyunglok Chung (Weill Cornell Medical College, USA)
09:00-09:20 Neuropathology and Treatability of DNM1L-associated Neurodevelopmental Disorder Seung Tae Baek (POSTECH, Republic of Korea)
09:20-09:40 Facilitating Rare Disease Diagnosis through Functional Studies Using Drosophila Shinya Yamamoto (Baylor College of Medicine, USA)
09:40-10:00 Functional Evaluation of Candidate Disease Gene Variants Using C. Elegans Stephen C. Pak (Washington University in St Louis, USA)
10:00-10:20 Investigating Human Brain Development and Disorders Using Stem Cell-derived Models Ki-Jun Yoon (KAIST, Republic of Korea)
10:20-10:40 Heterozygous 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)
10:40-11:00
(20min)
Break
11:00-12:00
(60min)
Scientific Session 6. Empowering Discovery through Genomic Data Sharing

Chair: David Adams (USA)

11:00-11:20 Strategies for Solving Undiagnosed Diseases in the Post-Genomic Era David Adams (National Institutes of Health United States, USA)
11:20-11:40 Long-read Sequencing: Collaborative Efforts from Africa and Asia to Solve a Mystery Vorasuk Shotelersuk (Chulaongkorn University, Thailand)
11:40-12:00 Harnessing the Power of Big Data in Korean Rare Disorder Research Jungmin Choi (Korea University, Republic of Korea)
12:00-13:30
(90min)
Scientific Session 7. New Diseases: Solved and Unsolved Diseases

Chairs: Jong Hee Chae (Republic of Korea), Wuttichart Kamolvisit (Thailand)

12:00-12:10 Variants in ZC3H13, Involved in the Epitranscriptomic Regulation of Messenger RNA, May Be Associated with a Novel Neurodevelopmental Disorder Marie Morimoto (National Human Genome Research Institute, National Institutes of Health, United States)
12:10-12:20 Unlocking the Family Diagnosis - The Power of Rephenotyping Vasilica Plaiasu (INSMC Alessandrescu-rusescu, Romania)
12:20-12:30 Breakthrough in ODC1: Clinical Insights, WGS Based Diagnosis, and Pioneering DFMO Treatment Gheona Altarescu (Shaare Zedek Medical Center, Israel)
12:30-12:40 Long-read Whole-genome Sequencing to Unravel Structural Variants Underlying Neurodevelopmental Disorders Yu-Ming Chang (National Cheng Kung University Hospital, Taiwan)
12:40-12:50 Oxford Nanopore Technologies Detects Variable Repeat Interruptions in Friedreich’s Ataxia-GAA Repeats Joohyun Park (University of Tuebingen, Germany)
12:50-13:00 Unveiling the Genetic Mystery: Recurrent RNU4-2 Variant in Undiagnosed Neurodevelopmental Disorders Juhyeon Hong (Korea University, Republic of Korea)
13:00-13:10 Discovery of a Novel De Novo EPHA7 Variant in a Neonatal Patient with Generalized Hypotonia and Severe Developmental Delay Hye-Won Cho (National Institute of Health Korea, Republic of Korea)
13:10-13:20 Atypical Presentations of Hereditary Spastic Paraplegia: Case Reports of Predominant Upper Limb Spasticity in Undiagnosed Patients Seoyun Jang (Seoul National University, Republic of Korea)
13:20-13:30 A Complex Case of Unilateral Cerebellar Dysplasia with Episodic Cerebellar Edema Young Ho Kim (Seoul National University, Republic of Korea)
13:30-14:30 Lunch Break
15:00-17:00 Quick City Tour (2 hour)
18:00~ Gala Dinner
(Venue : Ambassador Hotel)

Day 3 (September 7, Sat)

Time Program
09:00-12:30
(210min)
UDNI Committee & Working Group Reports

Chair: William Gahl (USA)

-CheilJedang Hall-

09:00-09:10 Wilhelm Foundation Strategic Plan (25th Anniversary) Helene and Mikk Cederroth; Raquel Peck
09:10-09:20 Review of UDNI and Current Leadership
(new BOD members – Kirmani, Pearce)
William Gahl
09:20-09:30 Membership; Industry Category/Update Eric Klee
09:30-09:40 Genetic Counseling Working Group Janine Lewis (Stephanie Broley)
09:40-09:55 Communications/Website
Marco Salvatore
Gianluca Ferrari
Domenica Taruscio
09:55-10:05 Low and Middle Income Countries Working Group
Domenica Taruscio
Manuel Posada
Samuel Wiafe
Olaf Bodamer
10:05-10:40 Champions Initiative Update
Salman Kirmani
Samuel Wiafe
Aime Lumaka
Guida Landoure
Ratna Puri
10:40-10:55 Education Working Group/UEMS/Medical
Competence and Medical Specialty
Bela Melegh
Domenica Taruscio
10:55-11:10 Functional Study Working Group
Shinya Yamamoto
May Malicdan
Stephen Pak
11:10-11:25 Break
11:25-11:35 Patient Engagement Plus
Gulcin Gumus
Helene Cederroth Debbie Drell
11:35-11:45 Diagnostics Working Group: Linking to Hackathons and Emerging Technology
Ann Nordgren
Emma Palmer
Lorenzo Botto
11:45-12:05 Nijmegen Hackathon Update
Future Hackathons
Wendy van Zelst-Stams
Mikk and Helene Cederroth
Olaf Bodamer
12:05-12:30 Data Sharing and Technology Working Group David Adams
Other Business William Gahl
12:30-13:30 Board to approve new members; charter
Rare Cancers Working Group
EURORDIS Rare Barometer Survey
Rare Disease International
RARE Journal
2025 Meeting
    Brazil
    Other
Issues Arising
Previous Topics for Discussion
Bela Melegh
Gulcin Gumus
Mary Wang
Wendy van Zelst-Stams
Roberto Guigliani (W. Gahl)
13:30-14:30 Lunch
*Wilhelm foundation courtesy

※ The schedule is subject to regular updates