Partnering opportunity

Innovative functional assay service for genetic variants


A UK company offers a functional assay service for genetic variants focusing on non-coding regions. The company's rapid, reliable & highly reproducible automated platform allows the rapid synthesis of promoter regions, screening & determination of the functional impact of nucleotide mutations to provide a more precise picture of each variant's role. They are seeking companies working in genetic testing, bioinformatics, & preclinical drug discovery, for service or technical cooperation agreement.

Partner expertise sought

Not available


It is often not known what the functional impact of a genetic mutation, or variant, will have on disease, thus limiting our ability to diagnose and treat patients. Traditional approaches to functionally evaluating new variants are slow and laborious, meaning as we enter the era of whole-genome sequencing in which thousands of new variants will be discovered, a bottleneck is beginning to form that threatens rapid progress in drug discovery and the early promise of preventative and personalised medicine efforts. This UK company offers a variant synthesis and analysis service for genetic non-coding regions. The company combines rapid variant synthesis and analysis in a human in vitro model system that is tailored to a specific disease context. In silico predictive tools are low-weight evidence in variant classification. In contrast, demonstrating a variant's impact directly in an in vitro assay provides stronger evidence for the variant's role in disease pathogenesis. The process is swift, enabling deep and accurate insight into the functional impact of nucleotide mutations. Furthermore, the company's automated platform - suitable for all throughputs - performs a reproducible functional assay, ensuring standardised data and eliminating the variability stemming from different methodologies across institutions. The impact of variants can be benchmarked against clinically-validated non-coding variants of the same gene, to reliably apply functional designations when assessing pathogenicity. The company is interested in partnering with SMEs and larger companies in the life sciences - particularly those working in preclinical drug discovery, bioinformatics, and genetic testing - who can benefit from a fast, reliable and convenient platform that offers detailed understanding of non-coding genetic variants. In addition, for those with limited facilities, like virtual biotechnology and bioinformatics startups or academics, the company can validate their results without them requiring a specialised lab.The types of partnerships sought are service agreements, technical cooperation agreement or discussions of possible EU calls.

Advantages and innovations

* Speed. The process is swift, with rapid experimentation and data generation. * Relevance. Reliable data is obtained by recapitulating the disease context. * Accuracy. Deep insight into mechanisms with high reproducibility. * Coverage. Scalability permits more evidence for classification. * Convenience. Automated process means no hands-on lab time and no shipping of reagents or materials.

Development stage

Already on the market

Intellectual Property Rights (IPR)


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