Invited Lecture

Is there still a need for clinical geneticists in a new AI world?

Speaker

• Alain VerloesDepartment of Genetics, Robert DEBRE University Hospital, Paris, France/ European Reference Network for (neuro)developmental anomalies ERN-ITHACA

Genome science research informing biology, diagnosis, and prospects for treatment in Autism Spectrum Disorder

Speaker

• Stephen SchererThe Hospital for Sick Children, University of Toronto, Canada

Mitochondrial Medicine

Speaker

• Takaaki AbeTohoku University Graduate School of Biomedical Engineering, Tohoku University Graduate School of Medicine

Unraveling the developmental dynamics of genome architecture through single-cell DNA replication profiling

Speaker

• Ichiro HirataniRIKEN Center for Biosystems Dynamics Research, Kobe, Japan

Symposium

Symposium 2：Elucidation of the genetic background in complex traits using the Japanese biobank data

Thursday, December 18, 10:10 - 12:10Room 2（5F, 503）

Chairs

• Atsushi ShimizuDivision of Biomedical Information Analysis, Institute for Biomedical Sciences of Iwate Medical University
• Kenichi YamamotoLaboratory of Children's Health and Genetics, Division of Health Sciences, The University of Osaka Graduate School of Medicine

Utilizing Tohoku Medical Megabank Multi-omics Data for Understanding Genetic Basis of Traits

Speaker

• Ikuko MotoikeDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University

Leveraging biobank resources in Japan explores genetics of multimorbidity in respiratory and cardiometabolic diseases

Speaker

• Yuji YamamotoDepartment of Statistical Genetics, Graduate School of Medicine, The University of Osaka

GWAS on longitudinal and cross-sectional traits of child health and development in a Japanese population

Speaker

• Natsuhiko KumasakaNational Center for Child Health and Development

Host Susceptibility to COVID-19 and COVID-19 Vaccination

Speaker

• Ho NamkoongDepartment of Infectious Diseases, Keio University School of Medicine, Tokyo, Japan

Symposium 4：Impacts of External and Internal Environments on the Epigenome

Thursday, December 18, 10:10 - 12:10Room 4（3F, 304）

Chairs

• Yoshifumi KasugaDepartment of Obstetrics and Gynecology, Keio University School of Medicine
• Naoko HattoriInstitute for Molecular and Cellular Regulation, Gunma University

Epigenetic Alterations and Cellular Senescence

Speaker

• Akiko TakahashiDivision of Cellular Senescence, Cancer Institute, Japanese Foundation for Cancer Research

Epigenome alterations in the tissue microenvironment and their impact on carcinogenesis

Speaker

• Naoko HattoriLaboratory of Integrative Metabolic Regulation, Institute for Molecular and Cellular Regulation, Gunma University, Tokyo, Japan

Early Life Stress or Neonatal Corticosterone Administration Change Genomic DNA Methylation Status in Mouse Sperm

Speaker

• Hidenobu MiyasoDepartment of Anatomy, Tokyo Medical University, Tokyo, Japan

Antenatal Steroids Save Neonatal Lives, Leaving Epigenomic Signatures: Epididymal Exosomes and Paternal Inheritance

Speaker

• Hirotaka HamadaDepartment of Obstetrics and Gynecology, Tohoku University Hospital

Epigenetic Memory of Environmental Stress

Speaker

• Keisuke YoshidaInstitute for Advanced Medical Sciences, Nippon Medical School, Tokyo, Japan

Transgenerational Inheritance of Epigenetic Memory in Mammals

Speaker

• Yuta TakahashiInternational Research Center for Medical Sciences, Kumamoto University

Symposium 5：Advances in Omics Analysis Technologies

Thursday, December 18, 15:55 - 17:55Room 1（5F, 501＋502）

Chairs

• Teppei ShimamuraInstitute of Science Tokyo
• Yutaka SuzukiGraduate School of Frontier Sciences, The University of Tokyo

Towards Multi-Omics Spatial Analysis to Reveal Cancer Heterogeneity

Speaker

• Yutaka SuzukiLife Science Data Research Center, Graduate School of Frontier Sciences, The University of Tokyo

Proteomic Analysis in Biobank Japan

Speaker

• Koichi MatsudaGraduate School of Frontier Science, University of Tokyo

Bridging Genotype to Disease: How Deep Learning Decodes the Cellular Impact of Genetic Variation

Speaker

• Teppei ShimamuraDepartment of Computational and Systems Biology, Medical Research Laboratory, Institute of Science Tokyo

Spatial multi-omics analyses of refractory cancers

Speaker

• Koji OkamotoAdvanced Comprehensive Research Organization, Teikyo University, Tokyo, Japan

Leveraging long-read sequencing and pangenome graphs for population-specific disease studies

Speaker

• Yosuke KawaiGenome Medical Science Project, National Institute of Global Health and Medicine, National Institute for Health Security

Symposium 6：Frontiers of Human Genetics Opened by Clinical Laboratory Medicine

Thursday, December 18, 15:55 - 17:55Room 2（5F, 503）

Chairs

• Kazuyuki MatsushitaChiba University Hospital
• Ohsuke MigitaSt. Marianna University, School of Medicine

Roles of Clinical Laboratory Physicians in Expanding Human Genetics: Emerging Technologies in Genetic Analysis

Speaker

• Motoi NishimuraDivision of Laboratory Medicine, Clinical Genetics and Proteomics, Chiba University Hospital

Genetic Analysis of Hemophilia for Personalized Medicine: From Variant Diversity to Variable Expressivity

Speaker

• Keiko ShinozawaDepartment of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan

Addressing the extra chromosome in human trisomy 21 cells using the CRISPR-Cas9 system

Speaker

• Ryotaro HashizumeDepartment of Pathology and Matrix Biology, Mie University Graduate School of Medicine

Human genome research in Ryukyu populations ~ Okinawa Bioinformation Bank project ~

Speaker

• Minako ImamuraDepartment of Advanced Genomic and Laboratory Medicine, Graduate School of Medicine, University of the Ryukyus

Symposium 7：Future Directions in Pediatrics: From Treatment to Prevention

Thursday, December 18, 15:55 - 17:55Room 3（3F, 303）

Chairs

• Atsuo KikuchiDepartment of Pediatrics, Tohoku University Graduate School of Medicine
• Toshiki TakenouchiDepartment of Pediatric Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences

Emerging Gene Therapies for DMD: Clinical Expectations and Ongoing Challenges

Speaker

• Hiroyuki AwanoOrganization for Research Initiative and Promotion, Tottori University

Advancing Therapeutics for Pediatric Liver Diseases: From PFIC2 Drug Development to the Research Platform CIRCLe

Speaker

• Hisamitsu HayashiGraduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo, Japan

Proteomic Screening and Diagnosis of Inborn Errors of Immunity Using Dried Blood Spots: Toward Early Intervention

Speaker

• Kazushi IzawaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan

How can information from large‑scale cohort studies be applied to pediatric practice?

Speaker

• Emiko NoguchiDepartment of Medical Genetics, Institute of Medicine, University of Tsukuba

Symposium 9：ASHG-ESHG-JSHG Joint Symposium：Genetics and Genomics Surrounding Newborn Screening

Friday, December 19, 9:40 - 11:40Room 1（5F, 501＋502）

Chairs

• Kimihiko OishiDepartment of Pediatrics, The Jikei University School of Medicine
• Noriko MiyakeDepartment of Pediatrics, Nagasaki University Institute of Biomedical Sciences

Bridging the Gap: Japan’s Expanding Newborn Screening and the Emerging Role of Genomic Testing

Speaker

• Kimihiko OishiDepartment of Pediatrics, The Jikei University School of Medicine

Newborn Genome Screening in Europe: Current Status and Prospects

Speaker

• David BickGenomics England, United Kingdom

GUARDIAN: Genomic Uniform screening Against Rare Diseases In All Newborns

Speaker

• Wendy K ChungBoston Children’s Hospital, Harvard Medical School, USA

Symposium 10：Advances in the Treatment of Genetic Disorders: From Small Molecules to Gene Therapy

Friday, December 19, 9:40 - 11:40Room 2（5F, 503）

Chairs

• Yoko AokiDepartment of Medical Genetics, Tohoku University Graduate School of Medicine
• Mariko Taniguchi-IkedaDepartment of Pediatrics Kochi Medical School

Advances in Therapeutic Development for Myotonic Dystrophy

Speaker

• Masayuki NakamoriDepartment of Neurology, Yamaguchi University Graduate School of Medicine

Advances in Multimodal Therapeutic Strategies for Duchenne Muscular Dystrophy

Speaker

• Hirofumi KomakiNational Center of Neurology and Psychiatry

Growing Gene Therapy -From Hope to Practice-

Speaker

• Karin KojimaDepartment of Pediatrics, Jichi Medical University

Nucleic acid therapy for Fukuyama congenital muscular dystrophy

Speaker

• Tatsushi TodaNational Center of Neurology and Psychiatry Hospital

Symposium 11：Recent Progress in Epigenomic Disease Research

Friday, December 19, 9:40 - 11:40Room 4（3F, 304）

Chairs

• Motoko UnokiGraduate School of Medicine, The University of Tokyo
• Kazuhiko NakabayashiDepartment of Maternal-Fetal Biology, National Center for Child Health and Development

Understanding the Regulation of Chromatin Accessibility and Its Applications

Speaker

• Yusuke MiyanariKanazawa University, Nano Life Science Institute, Cancer Research Institute

Epigenetic analysis of the Mendelian disorders of epigenetic machinery

Speaker

• Tomoko KawaiDepartment of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan

Molecular Insights into Beckwith-Wiedemann Syndrome and Related Imprinting Disorders

Speaker

• Hidenobu SoejimaDivision of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga, Japan

Molecular pathogenesis underlying imprinting disorders linked to defective cytoplasmic lattice formation in oocytes

Speaker

• Motoko UnokiDepartment of Human Genetics, The University of Tokyo, Tokyo, Japan

Past history of obesity exacerbates Age-related Macular Degeneration

Speaker

• Masayuki HataDepartment of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine

Accumulation of epigenomic aberrations by environment factors and lifestyles involved in gastric tumorigenesis

Speaker

• Atsushi KanedaDepartment of Molecular Oncology, Graduate School of Medicine, Chiba University, Chiba, Japan

Symposium 12：Genomic Analysis of Complex Diseases Toward Precision Medicine

Saturday, December 20, 9:40 - 11:40Room 1（5F, 501＋502）

Chairs

• Masato AkiyamaKyushu Univ.
• Yukinori OkadaDepartment of Genome Informatics, Graduate School of Medicine, the University of Tokyo

Genomic Analysis of Eye Diseases Causing Visual Impairment

Speaker

• Masato AkiyamaDepartment of Ocular Pathology and Imaging Science Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

Genome biology of suicide

Speaker

• Ikuo OtsukaDepartment of Psychiatry, Kobe University Graduate School of Medicine

The Triad of Gene, Behavior, and Disease Structured by ALDH2 rs671:
Toward Ancestry-Informed Precision Medicine

Speaker

• Yuriko KoyanagiDivision of Cancer Epidemiology and Prevention, Department of Preventive Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan

Cross‑biobank Polygenic Risk Scores for Precision Medicine

Speaker

• Takafumi OjimaDepartment of Genome Informatics, Graduate School of Medicine, The University of Tokyo

Applying causal inference approaches with genomic information: from “Who is at risk” to “Who remains healthy and Why?”

Speaker

• Ryosuke FujiiDepartment of Preventive Medical Sciences, Fujita Health University School of Medical Sciences

Symposium 13：Transformative Genetic Approaches in Reproductive and Perinatal Medicine

Saturday, December 20, 9:40 - 11:40Room 2（5F, 503）

Chairs

• Shiho UchidaKeio University
• Ken TakahashiCenter for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development

Non-invasive Preimplantation Genetic Testing for Aneuploidy (niPGT-A): Current Evidence and Ethical Considerations

Speaker

• Hiromitsu ShirasawaDepartment of Obstetrics and Gynecology, Akita University Hospital

Development of NIPT methods using amplicon-sequencing and single-cell omics technologies

Speaker

• Kazuhiko NakabayashiDepartment of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan

The utility of comprehensive genomic testing in families with stillbirth due to fetal disorders

Speaker

• Yuya TanakaDepartment of Obstetrics and Gynecology, Keio University School of Medicine

Potential of Cell-Free microRNA as Molecular Markers in Perinatal Medicine

Speaker

• Yuri HasegawaDepartment of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

Gestational Diabetes Management from the Perspective of Epigenetic Changes in Umbilical Cord Blood

Speaker

• Yoshifumi KasugaDepartment of Obstetrics and Gynecology, Keio University School of Medicine

Symposium 15：Translational Genomics of Psychiatric Disorders

Saturday, December 20, 15:30 - 17:30Room 1（5F, 501＋502）

Chairs

• Atsushi TakataLaboratory for Molecular Pathology of Psychiatric Disorders, RIKEN Center for Brain Science
• Takeshi NishiyamaDepartment of Public Health, Nagoya City University Graduate School of Medical Sciences

Strategies for Translating Psychiatric Genomic Research into Clinical Practice

Speaker

• Masashi IkedaDepartment of Psychiatry, Nagoya University Graduate School of Medicine

Potential for Genetic Information in the Diagnosis of Psychiatric Disorders

Speaker

• Kazutaka OhiDepartment of Psychiatry, Gifu University Graduate School of Medicine

Bipolar disorder and mitochondrial diseases: phenotypic spectrum by heteroplasmic variants

Speaker

• Masaki NishiokaDepartment of Psychiatry, Faculty of Medicine, Juntendo University

Insights into molecular heterogeneity of schizophrenia gained from multi-layer omics analyses of multiple mouse models

Speaker

• Yuki NiwaRIKEN Center for Brain Science, Saitama, Japan

Symposium 16：Rare Disease Genomics: Multifaceted Approaches to Understanding Genetic Causes and Pathomechanisms

Saturday, December 20, 15:30 - 17:30Room 3（3F, 303）

Chairs

• Takeshi MizuguchiDepartment of Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
• Koh-ichiro YoshiuraDepartment of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University

The roles of G-quadruplexes in rare genetic neurological disorders

Speaker

• Norifumi ShiodaDepartment of Genomic Neurology, Institute of Molecular Embryology and Genetics. Kumamoto University, Kumamoto, Japan

Identification of aberrant THE1B endogenous retrovirus fusion transcripts in sarcoidosis by digital genetics

Speaker

• Shunsuke FunagumaDepartment of Genome Medicine Development, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP)

Next generation cytogenetics: Applications of Optical Genome Mapping in Rare Disease Research

Speaker

• Atsushi FujitaDepartment of Human Genetic, Yokohama City University Graduate School of Medicine, Yokohama, Japan

Diseases identified through WGS analysis: Non-coding RNA-related diseases

Speaker

• Tadashi KanameDepartment of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan

Symposium 17：Shaping the future of genomic analysis through the next generation of bioinformaticians

Saturday, December 20, 15:30 - 17:30Room 4（3F, 304）

Chairs

• Natsuhiko KumasakaInstitute of Medical Science, The University of Tokyo
• Shohei KomakiIwate Medical University

Whole-exome sequencing in gynecologic diseases: the importance of strategic sampling

Speaker

• Kotaro TakahashiDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan

Cancer genome analysis based on personalized reference genome using long-read sequencing technologies

Speaker

• Yoshitaka SakamotoDivision of Genome Analysis Platform Development, National Cancer Center Research Institute, Tokyo, Japan

Epigenomic Resources from a Japanese Multi-generational Cohort: Toward DOHaD Insights and Pediatric Risk Prediction

Speaker

• Shiori MinabeDivision of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University

Inference and Assessment of Gene Regulatory Networks from Single-Cell Transcriptomic Data

Speaker

• Noriaki SatoDivision of Health Medical Intelligence, The Institute of Medical Science, The University of Tokyo

Machine learning reveals heterogeneous treatment effects of risk factors on diseases across polygenic risk scores

Speaker

• Tatsuhiko NaitoDepartment of Neuroscience, Icahn School of Medicine at Mount Sinai