Nagoya City University at ASHG 2026
Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website
Nagoya City University brings 6 presentations from 3 research groups to ASHG 2026 in Montréal. Its program centres on rare disease, clinical genetics, and reproductive and prenatal genetics. 神経グループ presents brain-organoid research on MYCN variants, 内分泌グループ brings thyroid findings from Slc26a7 knockout mice, and 名古屋市立大学大医学研究科 新生児・小児医学分野 presents a deep-intronic NIPBL diagnosis.
| Organization | ASHG 2026 Attendance |
|---|---|
Nagoya City University Nagoya, Japan | 4 PhD Students · 2 Clinicians |
神経グループncu-ped.com/treatment_g/nerve.php Studies pediatric neurological disorders using genetic analysis, MRI, EEG, iPS cells, brain organoids and model mice. Uses them for diagnosis and disease-mechanism research in children.
| Poster Wed Oct 21 2:30 pm MYCN gain-of-function variant alters cortical neuron production in human brain organoids NeurodevelopmentalMolecular pathophysiologyMendelian disorderBrain/nervous system Poster Thu Oct 22 4:15 pm A novel de novo DAGLA variant associated with characteristic abnormal eye movements and truncal ataxia Clinical geneticsExome/genome sequencingMendelian disorderNervous system Poster Fri Oct 23 2:30 pm DNA methylation episignature for OTUD5-related disorder as a complementary tool for variant interpretation EpigeneticsIntellectual and developmental disabilityMendelian disorderX-linked disease |
内分泌グループncu-ped.com/treatment_g/endocrine.php Studies pediatric endocrine disease using next-generation sequencing, CRISPR-Cas9 knockout mice and thyroid organoids. Uses EcoChil data to analyze childhood growth and iodine transport.
| Poster Fri Oct 23 2:30 pm Slc26a7 knockout mice demonstrate a distinct thyroidal response to iodine excess compared with Slc5a5 knockout mice. Characterization of disorders Poster Fri Oct 23 2:30 pm Two Cases of Heterozygous IGF1R Variants with Clinical Variability Endocrine systemGenotype-phenotype correlations |
名古屋市立大学大医学研究科 新生児・小児医学分野ncu-ped.com Analyzes exome, genome, long-read, epigenome, transcriptome, multi-omics and chromosome-microarray data. Uses gene-edited mice and iPS-cell tissue organoids to identify causes in undiagnosed disease.
| Poster Wed Oct 21 2:30 pm A mild case of Cornelia de Lange Syndrome with a deep intronic NIPBL variant diagnosed through whole-genome sequencing, DNA methylation analysis, and RNA analysis Splicing mechanismsVariant interpretationMethylationGenotype-phenotype correlations |
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