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Rare diseases: Advancing precision medicine for complex disorders

Rare diseases represent a diverse group of more than 7,000 disorders, many of which remain genetically unresolved. Although individually rare, their collective impact on patients and healthcare systems is substantial. The diagnostic journey is often prolonged due to genetic heterogeneity, structural variation, and regulatory mutations that are not easily captured by conventional approaches. At OHMX.bio, we apply advanced omics technologies to uncover the molecular mechanisms underlying rare diseases and to support translational research aimed at improving diagnostic accuracy and therapeutic development.
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Navigating the complexities of cell and gene therapy with OHMX.bio

The landscape of biologics, from engineered cell lines to viral vectors and mRNA constructs, demands rigorous quality control at every stage of development and manufacturing. Traditional QC methods often fall short in providing the precise, in-depth genetic and epigenetic insights required for these complex therapeutics. OHMX.bio bridges this gap by applying state-of-the-art sequencing, particularly Oxford Nanopore long-read sequencing, as a central tool for the quality control of biologics. This platform allows for complete and highly accurate sequence analysis of complex biological products, including mRNA constructs, plasmids, viral genomes, and engineered cell lines. Long-read sequencing enables the direct detection of full-length molecules, structural variants, and epigenetic modifications in a single run, providing deeper insights than conventional short-read or PCR-based methods.
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Precision omics for rare disease research

Rare diseases frequently involve complex genomic rearrangements, repeat expansions, splicing defects, or regulatory alterations. Resolving these mechanisms requires integrated molecular profiling across multiple biological layers.

Genomic and long-read sequencing

Whole-genome and whole-exome sequencing are central tools in rare disease research. However, unresolved cases often involve structural variants or repetitive regions that remain difficult to interpret using short-read sequencing alone.
Our long-read sequencing platforms enable the detection of structural variants, repeat expansions, and complex genomic rearrangements with high resolution. This approach improves variant interpretation, phasing, and characterization of challenging genomic regions, significantly enhancing diagnostic yield.

Transcriptomics and isoform analysis

Many rare disorders are driven by aberrant splicing events or altered gene expression. Through RNA sequencing and full-length transcript analysis, we assess transcript isoforms, identify expression outliers, and evaluate the functional consequences of genomic variants. Integrating DNA and RNA data strengthens genotype–phenotype correlations and supports more confident classification of candidate variants.

Proteomics and metabolomics integration

Genomic findings alone do not always explain disease pathology. Our mass spectrometry-based proteomics and metabolomics workflows provide complementary insights into dysregulated pathways and disease-associated molecular signatures. By integrating multi-omics datasets, we move beyond variant detection toward mechanistic understanding.

Advanced bioinformatics and data interpretation

Rare disease research generates complex, high-dimensional datasets that require rigorous analysis. Our bioinformatics team performs structural variant detection, variant prioritization, cross-omics integration, and functional annotation. This ensures that molecular findings are translated into biologically meaningful and clinically relevant insights.

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Case study

In a multi-omic study published in Nature Communications (Rooijers, K., Loayza-Puch, F., Nijtmans, L. et al. Ribosome profiling reveals features of normal and disease-associated mitochondrial translation. Nat Commun 4, 2886 (2013)), researchers utilized a combination of Whole-Genome Sequencing (WGS), RNA-seq, and Ribosome Profiling (Ribo-seq) to resolve the “missing heritability” in a patient with a suspected mitochondrial disorder. While DNA and RNA analyses failed to identify a clear pathogenic cause, the integration of Ribo-seq revealed that a rare variant in the 5′ untranslated region (5′ UTR) created an upstream Open Reading Frame (uORF) that sequestered ribosomes, effectively blocking the translation of the essential protein despite normal mRNA levels. This case highlights how translatomics can identify “invisible” functional null alleles, providing a definitive diagnosis for rare diseases where traditional genomics and transcriptomics remain inconclusive.
Schematic model for ribosome stalling at codons translated by affected tRNAs, explaining the unbalanced generation of long RPFs in mutant mitochondria. (source: Fig 6 in Rooijers et al., 2013)
Schematic model for ribosome stalling at codons translated by affected tRNAs, explaining the unbalanced generation of long RPFs in mutant mitochondria. (source: Fig 6 in Rooijers et al., 2013)
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Partner with OHMX.bio for your rare disease research

OHMX.bio combines state-of-the-art sequencing platforms, mass spectrometry technologies, and advanced bioinformatics expertise to accelerate rare disease discovery. We collaborate closely with academic institutions, clinical researchers, and biotechnology partners to transform complex molecular data into actionable insights.
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Let’s get in touch!

Interested in discussing how multi-omics approaches can support your rare disease project?
Our experts are ready to explore tailored solutions aligned with your research objectives.
Our experts will reply within 2 working days to freely discuss your omics project.

Our publications using our cell en gene therapies

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