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Advocacy Group, Genetics Company Partner on Brain Disorder

DNA illustration

(National Heart, Lung, and Blood Institute, NIH)

7 December 2015. The start-up genetics analysis company Pairnomix is collaborating with KCNQ2 Cure Alliance to better understand mutations leading to KCNQ2 epileptic encephalopathy, an inherited brain disorder. Financial and intellectual property aspects of the partnership were not disclosed.

KCNQ2 epileptic encephalopathy is a rare condition traced to mutations in the KCNQ2 gene, which produces instructions for making potassium channels. These channels carry potassium atoms in and out of cells, including nerve cells in the brain, and are instrumental in producing electrical signals. These channels produce a signal called M-current that prevents nerve cells from constantly transmitting, so that nerve cells are not constantly active.  When the M-current is reduced or not functioning properly, nerve cells can become over-excitable leading to seizures.

Mutations in KCNQ2 can cause benign familial neonatal seizures, a temporary condition in newborns, where seizures occur but stop in 1 to 4 months. Early-onset epileptic encephalopathy is a more severe condition, with epilepsy-type seizures and intellectual disabilities, including the inability to talk and low-muscle tone inhibiting physical movement. Only about 200 people have so far been diagnosed with KCNQ2 epileptic encephalopathy, but because it is only recently discovered, that number is expected to increase as more cases are uncovered.

Pairnomix, a company still in its formative stages — its official launch doesn’t take place until early next year — aims to provide genetic analysis services for precision medicine aimed at inherited conditions of the central nervous system, beginning with epilepsy and related disorders. Pairnomix’s scientific founder, David Goldstein, is a professor of genetics at Columbia University and director of the university’s Institute for Genomic Medicine.

The company plans to provide patients with a personalized genomic diagnosis, beginning with a preliminary review to identify genetic variations for exploration. Those variants are then subjected to a comprehensive analysis based on laboratory models, followed by testing of drugs targeting those variations, and a report to the patient’s physician with recommendations.

The KCNQ2 Cure Alliance, based in Denver, is an advocacy organization for families with children having KCNQ2 epileptic encephalopathy. The organization is sponsoring the Rational Intervention for KCNQ2 Epileptic Encephalopathy or Rikee project for sharing insights among physicians and researchers. The group also provides a patent registry for other interactions with medical researchers and a support group for parents to decrease family stress and isolation.

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