Time | Program | |||
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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) |
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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) |
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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) |
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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) |
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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- |
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15:50-16:00 | Strategies for the Unsolved Cases from the Telethon Undiagnosed Disease Program 3.0 Vincenzo Nigro (TIGEM, Italy) |
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16:00-16:10 | Learnings from Reanalysis of Genomic Data: The Indian Undiagnosed Diseases Program Neha Garg (SIR Ganga Ram Hospital, India) |
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16:10-16:20 | Undiagnosed Disease Programs in Two Turkish Settings: Rareboost and Istisna Projects Ugur Ozbek (IBG, izmir biomedicine and genome center, Türkiye) |
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16:20-16:30 | Optimizing Diagnostic Protocols through Translational Research for Undiagnosed Diseases May Christine Malicdan (NHGRI, National Institutes of Health, United States) |
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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) |
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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) |
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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) |
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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) |
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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) |
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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) |
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18:00~ | Welcome Dinner (Venue : HW Convention Center) *Wilhelm foundation courtesy |
Time | Program | |
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08:40-10:40 (120min) |
Scientific Session 5. Facilitating Collaborative Excellence in Rare Disease Research
Chair: Olaf Riess (Germany) |
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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) |
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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) |
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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) |
Time | Program | ||||||
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09:00-12:30 (210min) |
UDNI Committee & Working Group Reports Chair: William Gahl (USA) -CheilJedang Hall- |
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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 |
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09:55-10:05 | Low and Middle Income Countries Working Group |
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10:05-10:40 | Champions Initiative Update |
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10:40-10:55 | Education Working Group/UEMS/Medical Competence and Medical Specialty |
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10:55-11:10 | Functional Study Working Group |
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11:10-11:25 | Break | ||||||
11:25-11:35 | Patient Engagement Plus |
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11:35-11:45 | Diagnostics Working Group: Linking to Hackathons and Emerging Technology |
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11:45-12:05 | Nijmegen Hackathon Update Future Hackathons |
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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 |
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13:30-14:30 | Lunch *Wilhelm foundation courtesy |
※ The schedule is subject to regular updates