[S12] Advances in Rare Disease Research: From Genomic Diagnosis to Mechanism and Therapeutics | The 71st Annual Meeting of the Japan Society of Human Genetics

The 71st Annual Meeting of the Japan Society of Human Genetics

Session Details

Symposium

[S12]Advances in Rare Disease Research: From Genomic Diagnosis to Mechanism and Therapeutics

Sat. Nov 21, 2026 9:40 AM - 11:40 AM JST
Sat. Nov 21, 2026 12:40 AM - 2:40 AM UTC

Room 1 (Exhibition Hall 3-B, Exhibition Building, Sendai International Center)

Chair: Mariko Okubo (Department of Genomic Medicine Development, Medical Genome Center, NCNP), Takeshi Mizuguchi (Department of Human Genetics, Yokohama City University Graduate School of Medicine)

［English Session］

[S12-1]Beyond the exome: genome-transcriptome integration for interpreting non-coding variants in rare disease

Hirotomo Saitsu, Sachiko Miyamoto (Department of Biochemistry, Hamamatsu University School of Medicine)

[S12-2]Haplotype-resolved long-read genomic and epigenomic profiling improves variant interpretation in rare disease

Takeshi Mizuguchi (Department of Human Genetics, Yokohama City University Graduate School of Medicine)

[S12-3]SNUPN-Associated Spinocerebellar Ataxia: From Gene Discovery to Disease Modeling and Mechanistic Insights

Mariko Okubo (Department of Genomic Medicine Development, Medical Genome Center, NCNP)

[S12-4]From long-read genomic diagnosis to international N-of-1 therapeutic development for rare diseases

Koyo Tsujikawa¹, Yosuke Nishio^1,², Tomoo Ogi^1,² (1. Rare Disease Genome Centre, Nagoya University, 2. Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University)

[S12-5]From Genetic Diagnosis to Splicing-Directed Therapy: Targeting Pseudoexons in Rare Diseases

Tomonari Awaya (Department of Anatomy and Regenerative Biology, Osaka Metropolitan University)

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