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KCNQ2 epilepsy gene

Functional analysis of variants to aid understanding of children’s epilepsy

Performing sequence analysis on a patient with a suspected genetic disease is becoming a standard of care. However, when a genetic variation is identified as pathogenic in a disease state, clinicians and patients are faced with making difficult care decisions.

NemaMetrix has developed a platform that allows us to undertake functional analysis of variants to better understand genetic mutations which may or may not impact an individual’s health.

The platform includes the following key components:

  1. Creation of a ‘humanized’ animal model in which a homolog gene with human cDNA was replaced and phenotypic profiling was performed to ensure the gene is functioning in the animal model.
  2. Precisely modeling clinical variants of interest using CRISPR.
  3. Screening for the efficacy of available drugs on pathogenic patient variants.

The preliminary data, published at ASHG 2018 in partnership with Rady Children’s Institute, demonstrates the use of the platform to model children’s epilepsy and this disease’s associated genes.

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KCNQ2 epilepsy gene

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