Meniere Disease Atlas: A Multi-Omics Web Portal With Aggregated Data For Genetic Diagnosis
09-12, 09:00–09:30 (Europe/Istanbul), Equlibirium 1

Meniere Disease (MD) is an inner ear syndrome defined by episodes of vertigo associated with sensorineural hearing loss, tinnitus or aural fullness with a significant genetic contribution, including >20 genes reported in familial cases. Progress on genetic diagnosis is limited by the absence of integrated, accessible multi-omics data, hindering molecular insights and treatment development.

The MD Atlas integrates three datasets: genome aggregated MD variants (GRCh38-aligned, annotated for position, consequence, gnomAD frequencies); epigenomic data with methylated CpG sites from MD patients; and transcriptomic data including bulk RNA-seq from mononuclear cells and single-cell RNA-seq from B cells, CD4/CD8 T cells, monocytes, and NK cells of MD participants. Datasets were curated, standardized, and paired with visualization tools for each omics layer.

The MD Atlas offers interactive visualizations of aggregated genetic variants, methylation patterns, and gene expression, revealing novel MD-specific signatures validated against public datasets from around 1000 individuals. Cross-omics queries support hypothesis generation, with planned comparative tools to enhance gene discovery and personalized diagnosis.

Funded by the University of Sydney Meniere Research Neuroscience Program (Grant K7013_B341).


Introduce the MD Atlas, a web portal including genomic, epigenomic, and transcriptomic MD datasets, enabling genetic research with user dataset comparisons.

Speaker Speaker

Professor Lopez-Escamez is the leader in genetics of Meniere’s disease (MD) and tinnitus, with >200 publications and > 11000 citations, including the discovery 8/20 reported MD genes. He has relocated to Australia in 2023 to develop the Meniere’s disease Neuroscience Research Program at the Kolling Institute and the University of Sydney.

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