Targeting Genetic Diseases

Targeting Cancer 

Almost every disease has some degree of genetic influence, however in cancer, genetic and epigenetic (gene-regulation) alterations are almost exclusively responsible for disease onset and progression. Genetic biomarkers are increasingly important tools to determine the effectiveness of therapeutic treatments, but more work is needed to determine which biomarkers are important disease drivers or predictive markers of drug responsiveness or resistance. Cancer is particularly challenging as it is not a single uniform disease, but instead is caused by the presence of multiple genetic mutations that can vary in number and composition between patients. Moreover, genetic and epigenetic biomarkers often vary between cells within the same tumor and its metastases, making diagnosis and therapeutic decisions more difficult.

The translation of genomic information into practical drug discovery, diagnostic and theranostic tools requires the development of biologically relevant laboratory-based disease models. Such disease models need to accurately recreate specific genetic alterations and regulatory events both in isolation and in specific combinations (along with their isogenically matched reference parent cell lines) that are significant in human cancer onset and progression.

Horizon’s GENESIS™ platform confers the ability to rapidly introduce any genetic variation, including subtle, yet highly significant ‘gain-of-function’ disease mutations (common in many forms of cancer), into any endogenous gene loci of any human cell line; thus accurately modelling real patient genotypes.

Drugs are now being developed based on prevalent and well-established cancer mutations, but in order to truly address the full complexity of disease, researchers will next need to target less frequent mutations, that will not always be directly drugable and which may require the development of rational drug combinations based on defined sets of theranostic biomarkers. Doing so requires systematically defined novel targets and therapies that address disease pathways, especially targets and drugs that provide a robust ‘synthetic lethality’ (i.e. when the target is inhibited then cell death occurs) in the context of specific cancer mutations versus normal genetic backgrounds.

X-MAN® isogenic cell lines have been generated using GENESIS™ to ensure only a single occurrence of a desired genetic change or changes are introduced in a parental cell line with no off-target or undesired modifications. This allows biologically relevant studies to be performed where any differences between the mutant and parental cell lines in response to a range of experimental conditions can be directly attributed to the chosen genetic change(s).

Beyond Cancer

Gene engineering and isogenic cell lines are applicable in research beyond cancer, with work underway in the fields of cardiology, neurology, autoimmune disease and a number of other areas. The same approaches are also being used in non-human cells, such as mouse cell lines for research and Chinese Hamster Ovary (CHO) cells for optimized manufacture of biologics.

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