Program
Special Lecture
Special Lecture1
Thu.,December 15 11:20 ～ 12:10 Room 1
- Chair
- Haruhiko Sago
(Center for Maternal-Fetal, Neonatal and Reproductive Medicine/
National Center for Child Health and Development, Tokyo, Japan)
「Circulating DNA: coming in all sizes and forms」
- Speaker
- Yuk Ming Dennis Lo
（The Chinese University of Hong Kong, China）
Invited Lecture
Invited Lecture3
Fri., December 16 13:10 ～ 13:55 Room 1
- Chair
- Haruhiko Sago
(Center for Maternal-Fetal, Neonatal and Reproductive Medicine/
National Center for Child Health and Development, Tokyo, Japan)
「The History and Future of Prenatal Diagnosis」
- Speaker
- Mark I Evans
(Fetal Medicine Foundation of America/Obstetrics and Gynecology Mt. Sinai School of Medicine, USA)
Invited Lecture5
Sat., December 17 13:10 ～ 13:55 Room 1
- Chair
- Haruhiko Sago
(Center for Maternal-Fetal, Neonatal and Reproductive Medicine/
National Center for Child Health and Development, Tokyo, Japan)
「Technical advances in genetic prenatal diagnosis」
- Speaker
- Chen Ming
(Changhua Christian Hospital Medical Center, Changhua, Taiwan)
Symposium
Symposium 4: Advances in Neurological and Muscular Diseases in the Whole Genome Sequencing Era
December 15 13:30～ 15:20 Room 2
- Chair
- Hiroyuki Ishiura
(Department of Neurology, Okayama University, Okayama, Japan)
- Chair
- Satoko Miyatake
(Department of Clinical Genetics, Yokohama City University Hospital, Kanagawa, Japan)
S4-1 「Genetic analysis and role of rare variants in ALS-causing genes in the Japanese ALS series」
- Speaker
- Hiroya Naruse
(Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan)
S4-2 「Perspectives of spinocerebellar degeneration in whole exome/genome sequencing era」
- Speaker
- Yuji Takahashi
(Department of Neurology, National Center of Neurology and Psychiatry, Kodaira, Japan)
S4-3 「Large-scale genome sequencing in myology - current status and future」
- Speaker
- Ichizo Nishino
(Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan)
S4-4 「Applications of long-read sequencing technologies in neurological and muscular diseases」
- Speaker
- Takeshi Mizuguchi
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
S4-5 「Pathogenesis of Cerebral Small Vessel Disease Revealed by Genetic Analysis」
- Speaker
- Osamu Onodera
(Department of Nuerology, Brain Research Institute, Niigata University, Niigata, Japan)
Symposium 9: ASHG-ESHG-JSHG Session“Recent Advances in Chromosome Research”
Fri. December 16 9:00～ 10:50 Room 1
- Chair
- Kimihiko Oishi
(Department of Pediatrics, the Jikei University School of Medicine, Tokyo, Japan)
- Chair
- Noriko Miyake
(Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan)
S9-1 「Clinical Cytogenetics in the Era of the 3D Genome」
- Speaker
- Cynthia C. Morton
(Departments of Obstetrics and Gynecology and of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, USA)
S9-2 「Structural variants in the light of 3D genomics – how abnormal gene regulation can cause disease」
- Speaker
- Stefan Mundlos
(Max Planck Institut für molekulare Genetik, Berlin, Germany/Charité, Universitätsmedizin Berlin, Germany)
S9-3 「New aspects of numerical and structural alterations in human chromosomes」
- Speaker
- Maki Fukami
(Department of Molecular Endocrinology, National Research Institute for Child Health and Development,Tokyo,Japan)
Symposium 15: Genomic Medicine in Acute Pediatric and Neonatal Care
Sat. December 17 9:00～ 10:50 Room 2
- Chair
- Naoya Morisada
(Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan)
- Chair
- Toshiki Takenouchi
(Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)
S15-1 「Clinical sequencing of childhood diseases: a challenge from Center for Medical Genetics,Shinshu University Hospital」
- Speaker
- Tomoki Kosho
(Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan/Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan/Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan/Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan)
S15-2 「Acute care genomics in Taiwan」
- Speaker
- Ni-Chung Lee
(Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan)
S15-3 「Rapid Genetic Diagnosis in Sick Neonates in Japan」
- Speaker
- Toshiki Takenouchi
(Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)
S15-4 「Pediatric nephrogenomics: therapeutic approach in Alport syndrome」
- Speaker
- Tomoko Horinouchi
(Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan)
S15-5 「Clinical cancer genomics and liquid biopsy for pediatric malignancy」
- Speaker
- Motohiro Kato
(Department of Pediatrics, The University of Tokyo, Tokyo, Japan)
Award Lecture
The Journal of Human Genetics Young Scientist Award Lectures
Fri., December 16 16:50 ～ 17:25 Room 1
- Chair
- Toshihiro Tanaka
(Editor-in-Chief of the journal of human genetics/BioResource Research Center,Tokyo Medical and Dental University)
JHG-1 「Effect of enzyme replacement therapy on the growth of patients with Morquio A」
- Speaker
- Caitlin Doherty
(Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE,USA)
JHG-2 「Papuan mitochondrial genomes and the settlement of Sahul」
- Speaker
- Nicole Pedro
(Instituto de Investigação e Inovação em Saúde, Universidade do Porto)
JHG-3 「SARS-CoV-2 genomic variations associated with mortality rate of COVID-19」
- Speaker
- Yujiro Toyoshima
(Project for Immunogenomics, Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, Japan)
Oral Presentation Award Session
Fri., December 16 11:00 ～ 11:50 Room 1
- Chair
- Kenjiro Kosaki
(Center for Medical Genetics, Keio University School of Medicine)
- Chair
- Haruhiko Sago
(Center for Maternal-Fetal, Neonatal and Reproductive Medicine, Center for Clinical Genetics,National Center for Child Health and Development)
BO-1 「Targeted local assembly using Nanopore long reads enables in-depth sequence analysis of repetitive regions」
- Speaker
- Ko Ikemoto
(Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan)
BO-2 「A common deletion at BAK1 attenuates enhancer activity and confers risk of intracranialgerm cell tumors」
- Speaker
- Kyuto Sonehara
(Osaka University Graduate School of Medicine, Suita, Japan)
BO-3 「Elucidation of genetic characteristics related to onset age of atopic dermatitis」
- Speaker
- Keiko Hikino
(RIKEN, Yokohama, JAPAN)
BO-4 「Alu-mediated genomic rearrangements revealed by multi-omics analysis」
- Speaker
- Yoshihito Kishita
(Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka,Japan/ Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo,Japan/ Kindai University, Graduate School of Science and Engineering, Genetic Counselor Training Course,Osaka,Japan)
BO-5 「A new evaluating method for undiagnosed fetal structural anomalies by whole exome sequencing, including introns」
- Speaker
- Taniguchi Kosuke
(Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan)