プログラム

招待講演1

The genetics of congenital heart disease: Long, dazed journey into clinic

招待講演2

招待講演3

Integrating Human Genetics and iPSC Modeling Reveals Cholesterol Biosynthesis as a Therapeutic Target in ALS

招待講演4

Genomic Medicine Japan and its mission

招待講演5

Emerging Physiological Roles of RNA Modifications and Their Links to Human Genetic Disease

シンポジウム1 English

Advancing human genetics in East Asia: Connecting the Next Generation of Human Genetics

Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study in multiple populations

Deep population history and the landscape of complex disease genetics in East Asia

Genotype-Specific Motor Trajectories and Phenotypic Clustering in Hereditary Spastic Paraplegia

Structural Resolution Redefines the Clinical Interpretation of Intragenic Duplications: Lessons from the DMD Gene

Genomic Variation Between and Within Individuals: An Epidemiological Perspective on Disease Risk

Deciphering Genetic Dynamics through Gene–Environment Interactions: Toward Precision Medicine and Drug Discovery

シンポジウム2 English

次世代の神経ゲノム医学：多様な発症機序と修飾因子から遺伝子標的治療への繋がり

Long-read sequencing: Unveiling the hidden landscape of neurogenetics

Paradigm shifts in repeat expansion disorders

Repeat Expansions in Sporadic Neurodegenerative Diseases: Focusing on BIN1 Abnormalities in Multiple System Atrophy

Genetic modifiers of phenotypic heterogeneity in ALS

From registry-based approach to precision medicine in familial ALS

シンポジウム3 English

周産期医学における栄養の重要性を遺伝学の観点から考える

Metabolic Reprogramming and Epigenetic Dynamics during Human Early Embryonic and Primordial Germ Cell Development

Reproductive and Pregnancy Outcomes in Women Born with Low Birth Weight

Diet, Gene-Diet Interaction, and Pregnancy Complications: Evidence from Cohort Studies in the US and Japan

Fetal vitamin D status and childhood asthma: maternal nutrition, placental biology, and vitamin D-related genetics

Maternal Birth Weight, Intrauterine Environment, and Pregnancy Complications in Japanese Birth Cohorts

Maternal Folate Administration Acts on Neural Crest Cell Development to Ameliorate Cardiac Outflow Tract Malformations

シンポジウム4 日本語

genotypeとphenoypeをつなぐ臨床検査の進歩

From Genotype to Phenotype in Inherited Dyslipidemias: The Expanding Role of Clinical Laboratory Testing

Advances in HbA1c Measurement and Abnormal Hemoglobins: Connecting Clinical Laboratory Findings to Genotype

Bridging Genotype and Phenotype: Advances in Endoscopy for Hereditary Gastrointestinal Tumor Syndromes

The Vital Role of Cardiovascular Examinations in Bridging Genotype and Phenotype

シンポジウム5 English

AI-driven Genetics for Precision Medicine

AI-driven phenomics for precision genetic diagnosis and variant interpretation

Diagnostic supports for rare diseases utilising artificial intelligence

シンポジウム6 日本語

疾患モデル研究が導く遺伝性疾患の理解と治療 Disease Model Research Driving the Understanding and Treatment of Genetic Disorders

Diversity and decline in the regenerative ability of vertebrate appendages.

Modeling vascular disorders with genome-edited iPS cells and flow-based platforms

From chromatin loops to mitochondria: decoding MBD-family dysfunction in Rett syndrome and MAND

Generation of Full-Length Gene-Humanized Mice for Modeling Human Biology and Disease

Transchromosomic Technology for Genomically Humanized Disease Models

シンポジウム7 English

Establishing Comprehensive Germline Analysis for Cancer Patients: A Roadmap from MGPT to WGS

National Implementation of Cancer WGS: Advancement of the Action Plan for Whole Genome Sequencing

Clinical Implementation of Cancer WGS in Japan: A Framework for Germline Findings

Maximizing Clinical Utility of Moderate-Penetrance Variants: Transitioning from Risk Assessment to Treatment Selection

Germline Profiling in Pediatric Oncology: Early Identification of Cancer Predisposition Syndromes and Long-term Benefits

Cardiovascular Secondary Findings in Cancer WGS: From Variant Interpretation to Specialist Care

シンポジウム8 日本語

着床前遺伝学的検査における遺伝性疾患の重篤性を考える

Assessing Severity in Preimplantation Genetic Testing for Monogenic Disorders: Evolving Challenges in Japan

Criteria for seriousness of hereditary disease is still in the process of being established

Reconsidering the severity of adult-onset hereditary neurological and neuromuscular disorders: A Neurologist's Perspective

Considering Seriousness in Hereditary Tumors: Phenotypic Assessment and Genetic Counseling

Rethinking “Severity” in PGT-M: Five Questions on Perspective, Justification, and Responsibility

シンポジウム9 日本語

アスリートにおけるSRY検査を考える―公平性・多様性・遺伝医療の接点から―

Issues Surrounding SRY Gene Testing in Female Athletes

Human Sex Differentiation: Lessons from Disorders of Sex Development (DSD)

DSD and SRY Testing for Female-Category Eligibility: JAAF Implementation from a Clinical Geneticist's Perspective

A Dialogue Between Sport and Genetic Medicine on SRY Testing: Implementation and Positioning of Genetic Information

Supporting Female Athletes Undergoing SRY Gene Testing - A Genetic Counselor’s Perspective -

シンポジウム10 English

エピゲノムと再生医療：基礎から応用に向けた取り組みまで

Genetic and epigenetic diversity at evolutionarily young transposable elements across human induced pluripotent stem cell lines

Understanding developmental compatibility between species toward interspecies organ regeneration

Toward the reconstruction of snake “limb” cells through reprogramming

Epigenetic control of neuronal identity and brain repair through direct reprogramming

Age-Associated Gene Regulatory Changes in the Choroid Plexus and Their Impact on CSF and Brain Homeostasis

Astrocyte-enriched cortical organoids for studying human brain development, synaptogenesis and neural circuit formation

シンポジウム11 English

RASopathies- history and future perspective

Overview-the molecular genetics of somatic, mosaic, and germline RASopathies

Noonan syndrome and related disorders: How to get to less but not too little

RASopathies Model Mice for Elucidating the Pathogenetic Mechanism and Developing Treatments

RASopathies in vascular anomalies: from somatic variant discovery to pathway-targeted therapy

RASopathies and hematologic malignancies: genetic and immunological analysis of juvenile myelomonocytic leukemia

シンポジウム12 English

希少疾患研究の新展開 ― ゲノム診断から病態解析・創薬へ ―

Beyond the exome: genome-transcriptome integration for interpreting non-coding variants in rare disease

Haplotype-resolved long-read genomic and epigenomic profiling improves variant interpretation in rare disease

SNUPN-Associated Spinocerebellar Ataxia: From Gene Discovery to Disease Modeling and Mechanistic Insights

From long-read genomic diagnosis to international N-of-1 therapeutic development for rare diseases

From Genetic Diagnosis to Splicing-Directed Therapy: Targeting Pseudoexons in Rare Diseases

シンポジウム13 English

小児遺伝医療の羅針盤　―ゲノム解析と病態理解から医療実装へ―

Genetic Etiology of Persistent Truncus Arteriosus: Prevalent TMEM260 Variants in the Japanese Population

The Importance of Early Detection and Treatment Initiation in Familial Hypercholesterolemia

A Novel Inborn Error of Immunity Caused by Heterodimeric Interference of BCL11B

Therapeutic prospects for Fukuyama congenital muscular dystrophy: from splicing pathology to clinical implementation

シンポジウム14 English

様々な先端解析手法からがんゲノムを探索する；　To explore cancer genomes through advanced technologies and large databases.

Deciphering VUS Pathogenicity via Phenotypic Enrichment Analysis Using C-CAT Data

ABO Blood Group as an Inherited Host Trait: Survival and Spatial Tumour Immunity in Pancreatic Cancer

Spatiotemporal dynamics of clonal selection and diversification of somatic mutations in normal human endometrial epithelium

Decoding Cancer-Specific Enhancers and Gene Regulation through Large-Scale Transcription Start Site Analysis

Embryonic origins of epigenetic mosaicism in the human colorectal epithelium

シンポジウム15 日本語

日本列島人の形成・多様化・適応を探るゲノム研究

From Jomon to Present-Day Japan: Genomic Insights into Population Formation and Regional Diversity

Jomon genomes illuminate the formation, diversity, and adaptation of populations in the Japanese Archipelago

Genetic Diversity, Population Structure, and Natural Selection in the Japanese Population

Genomic perspective on the peopling of the Ryukyu Archipelago

Human Evolution in the Era of Complete Genome Sequencing

シンポジウム16 English

多因子疾患の遺伝的基盤解明に向けたゲノム解析の新展開

Experimentally-Informed Cell-State Modelling: Linking Single-Cell Genomics to GWAS Interpretation

Alcohol-Metabolism Genotypes and Multifactorial Cancer Risk in Japan

Rare k-mers reveal centromere haplogroups underlying human diversity and cancer translocation

Beyond Mendelian Inheritance: Unraveling the Complex Genetic Architecture of Cardiomyopathies

Machine learning-guided interpretation of rare variants affecting RNA splicing

シンポジウム17 English

ヒト遺伝学の解像度を高める新技術

Comprehensive understanding of lung cancer abnormalities using genomic and multi-omics measurement technologies

Transcriptome analysis using long-read sequencing technology

Deciphering human functional genome using Massively Parallel Reporter Assays

Interpreting Disease Variants in Glycan-Related Genes from Protein Structure and Glycosylation

Development of a Sequencing Method for Tear-Derived DNA: Application to Liquid Biopsy of Ocular Malignancies

教育セッション1

Genetic Medicine in Reproductive and Perinatal Care: Current Practice and Emerging Challenges

教育セッション2

Hereditary Cancer: Clinical Insights from Endometrial and Ovarian Cancer

教育セッション3

Core Pillars of Comprehensive Practice in Pediatric Genetics

教育セッション4

Ethical Challenges and Clinical Practice in Presymptomatic Genetic Testing for Adult-Onset Hereditary Disorders

教育セッション5

Navigating Genetic Testing for Patients with Undiagnosed Diseases: Test Selection and Result Interpretation

教育セッション6

Advances in genomic medicine

教育セッション7

Multifactorial Diseases, Genetic Susceptibility, and Polygenic Risk Scores: Basic Concepts and Clinical Interpretation

教育セッション8

The 2026 Revision of Medical Service Fees under public health insurance system