Connecting Mutations to Health

Using Heligenics cell-based genetic variant libraries

The function of most amino acid substitutions is largely unknown

Through a massively parallel in-vivo process called the GigaAssay, Heligenics produces a Gene Mutation/Function Library (“GMLs”). Each GML measures the impact of all possible amino acids substitutions in the functional target protein, doing in a short time what would ordinarily take years or even decades to perform.

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Heligenics answers challenges across three main markets:

Heligenics can comprehensively measure the functional significance of naturally occurring mutations in the human genome, increasing the accuracy of genetic testing (whether for rare disease or cancer), and providing unique solutions for drug development and drug rebirth.

And we can do it in only a few months!

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Research genetic susceptibility to COVID-19 disease

Heligenics can produce Gene Mutation/Function libraries (GML)s for all variants in the promoter and 3’ UTR that affect gene expression and in the coding region that effect binding of SARS-CoV2. These GMLs can be important for understanding COVID-19 pathogenesis and then genetic testing for COVID-19 susceptibility and prognosis.

  • You can understand the impact of genetic variation in the ACE2 promoter

  • You can measure the impact of variation in 5’ promoter regions, 3’ untranslated regions, and even double single nucleotide variants as grouped haplotypes

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Determine the impact of VUS on the functions of amino acids or promoters

Each Gene Mutation Library measures the impact of all possible amino acid substitutions. For example, one isoform of BRCA1 has 1816 amino acids. To individually test each amino acid substitution by other approaches would be impossible.

  • You can an expand your genetic test offering beyond single substitutions in coding regions.

  • You can measure the impact of variation in 5’ promoter regions, 3’ untranslated regions, and even double single nucleotide variants as grouped haplotypes

Determine the impact of natural human variation upon your clinical trial

Known risk profiles in the drug development process can be greatly enhanced through identification of key functional genetic variants and amino acid positions. You can identify resistance variants in the human population in advance, or identify substitutions impacting function near your drug binding site. Alleles that produce resistance or toxicity as identified by GMLs can then guide candidate selection, drug derivitization, and trial design.

  • Enhance your dose-response and toxicity safety studies through identifying key functional genetic variants

  • Identify variants in your populations that confer resistance

  • Identify substitutions that impact function near your drug binding site, thus guiding your derivitization process

Rescue a failed drug candidate by discovering underlying genetic variation that impacts efficacy and safety.

Unlock the potential of a previously failed drug through an understanding of underlying genetic variation that could negatively impact safety and efficacy, or identify resistance substitutions or mutations near the drug binding site.

  • The Variants of Unknown Significance are growing exponentially with detailed analysis of increasing numbers of tumor samples.

  • Functional determination of key cancer driver gene mutations may provide valuable information for new therapeutic options.

Understand functional genetic variation

Unlock the power of massively parallel functional genomics to solve your diagnostic or drug development challenges.

Join the Functional Genome Revolution!

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