ASHG 2026 · Tier 2–3 Academic

Keio University at ASHG 2026

Tokyo, Japan

Keio University at ASHG 2026 in Montréal: 8 presentations (8 posters); 5 research groups.

8
presentations on the program
5
research groups identified
1
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
Keio University
Tokyo, Japan
4 Faculty · 1 PI
Center for Medical Geneticscmg.med.keio.ac.jp
Wet + dry lab~22 people
Analyzes DNA and amplicon sequencing data, including Illumina MiSeq SARS-CoV-2 sequences. Supports diagnosis of rare and undiagnosed diseases and public-health research.
66 papers since 2024
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis
The American Journal of Human Genetics, 2024
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
Orphanet Journal of Rare Diseases, 2024
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Scientific Reports, 2024
Source: OpenAlex author A5088798513
Funded by AMED
AMED, 難治性疾患実用化研究事業 · 2019年度
“国立研究開発法人日本医療研究開発機構(AMED)2019年度 難治性疾患実用化研究事業”
Source: lab pages
9 platforms and techniques
Works with
Illumina MiSeq, ARITC primer set version 3, SARS-CoV-2 whole-genome sequencing, Microarray chromosome testing
Techniques
PCR amplification, Amplicon sequencing, Variant calling, Sequence alignment, Comprehensive genetic diagnosis
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
HPO-embedded candidate-only VCFs for phenotype-aware exchange of candidate variants in rare and undiagnosed disease cohorts
Genetic, Genomic, and Epigenomic Resources and Databases
Collaborators: National Center For Child Health and Development, Database Center for Life Science +1 more
Computational toolsExome/genome sequencingIdentification of disease genesVariant interpretation
Poster
Wed Oct 21
2:30 pm
Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening
Mendelian Phenotypes
Collaborators: University of Tsukuba, Kanagawa Children's Medical Center +12 more
Non-coding RNAClinical geneticsRare variantsIntellectual and developmental disability
Poster
Fri Oct 23
2:30 pm
Haplotype-aware single-base resolution CpG methylation mapping of female individuals with skewed X-inactivation reveals conserved Xi-specific hypomethylated regions in humans and mice
Epigenomics
Collaborators: RIKEN BioResource Research Center, Okayama University +2 more
BioinformaticsEpigeneticsLong-read sequencingMethylation
Center for Supercentenarian Medical Researchkeio-centenarian.com
Wet + dry lab~13 people
Studies centenarians using whole-genome sequencing, single-cell RNA and blood-biomarker data. Uses Japanese JSS, TCS, TOOTH and KAWP cohorts to study healthy longevity.
46 papers since 2024
An Expert Consensus Statement on Biomarkers of Aging for Use in Intervention Studies
The Journals of Gerontology Series A, 2024
Effect of number of medications on the risk of falls among community‐dwelling older adults: A 3‐year follow‐up of the SONIC study
Geriatrics and gerontology international/Geriatrics & gerontology international, 2024
Effects of multimorbidity and polypharmacy on physical function in community-dwelling older adults: A 3-year prospective cohort study from the SONIC
Archives of Gerontology and Geriatrics, 2024
Source: OpenAlex author A5057246164
Funded by AMED, A*STAR +2 more
Wellcome Leap, Dynamic Resilience · 2023年9月~
“Wellcome Leap (WL) の Dynamic Resilience プログラムからの研究助成(2023 年9月~)を受け”
AMED, CiCLE · 2018年度より開始
“国立研究開発法人日本医療研究開発機構(AMED)による医療研究開発革新基盤創生事業(CiCLE)に基づき”
AMED, SICORP · active
“AMEDの医療分野国際科学技術共同研究開発推進事業(SICORP)、およびシンガポール科学技術研究庁(A*STAR)の支援を受けています。”
+1 more on the lab page
Source: lab pages
8 platforms and techniques
Works with
Whole-genome sequencing, Single-cell RNA analysis
Techniques
Single-cell RNA sequencing, Transcriptome analysis, AI-based gene-expression prediction, Antibody-expression analysis, Longitudinal cohort studies, Blood biomarker measurement
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Genetic architecture of exceptional longevity in Japanese centenarians and its association with disability-free survival
Statistical Genetics and Genetic Epidemiology
Collaborators: Tohoku University, RIKEN Center for Advanced Intelligence Project +6 more
Polygenic risk scoreGenome-wide association studyGenetic epidemiology
Department of Preventive Medicine and Public Healthkeiopublichealth.jp/index-en.html
Dry lab~15 people
Analyzes metabolomics, genomics, lifestyle and biometric data using multi-omics and biostatistics. Studies precision prevention, cardiovascular disease, occupational health and women’s health.
8 platforms and techniques
Analyzes
Capillary electrophoresis–mass spectrometry
Techniques
Multi-omics analysis, Epidemiological cohort studies, Causality methodologies, Bias adjustment, Missing-data handling, Health services research, Human population cohorts
Source: lab pages
No funding stated · No openings posted
Poster
Thu Oct 22
4:15 pm
A shared heritable axis underlies visit-to-visit variability across nine cardiometabolic traits in a Japanese annual checkup cohort
Statistical Genetics and Genetic Epidemiology
Collaborators: Tohoku University
Cardiovascular systemComplex traitsGenome-wide association studyHeritability
Ishigaki Labimmunogenetics.med.keio.ac.jp/en
Wet + dry lab~12 people
Runs CRISPR-Cas9 genome editing and analyzes single-cell eQTL and multi-omics data. Targets immune-disease risk polymorphisms and evaluates polygenic risk scores.
42 papers since 2024
Granzyme K activates the entire complement cascade
Nature, 2025
Asian diversity in human immune cells
Cell, 2025
Clonal associations between lymphocyte subsets and functional states in rheumatoid arthritis synovium
Nature Communications, 2024
Source: OpenAlex author A5061198146
9 platforms and techniques
Works with
CRISPR-Cas9, single-cell eQTL analysis, multi-omics data analysis, single-cell transcriptome analysis
Techniques
genome editing, TCR repertoire analysis, polygenic risk scores, GWAS, single-cell eQTL analysis
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
CATaN maps gene regulatory programs that shape genetic risk across complex diseases
Complex Traits and Polygenic Disorders
Collaborators: RIKEN Center for Integrative Medical Sciences, The University of Tokyo +1 more
Autoimmune disorderBioinformaticsComplex diseasesComputational tools
臨床遺伝学センター
Works in rare disease and clinical genetics.
Poster
Thu Oct 22
4:15 pm
Pathogenic mobile element insertions as overlooked causes of unresolved rare disease: clinical detection and ancestry-enriched founder alleles
Laboratory Genetics and Genomics
Collaborators: Aichi Developmental Disability Center, Children's Hospital
Laboratory genetics and genomicsClinical testingExome/genome sequencingVariant calling
1 more presenter — research group not yet identified

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