HOUSTON, Dec. 3, 2016 /PRNewswire/ -- Pairnomix, LLC,
a genetic research company and member of the Patient-Empowered
Precision Medicine Alliance (PEPMA) recognized by the White House,
today announced that findings from its first case study of an
individualized approach to the identification of candidate
therapies for a patient with epileptic encephalopathy caused by a
mutation in the SCN8A gene were presented at the
70th Annual Meeting of the American Epilepsy Society in
Houston, TX, December 2-6, 2016.
Pairnomix' unique process involves creating a model of a
patient's genetic mutation, learning about the functional
consequences of that mutation, and testing approved drugs against
the model to identify potential new treatment options.
Findings are provided to the patient's physician so together they
can make better-informed healthcare decisions.
"We are very pleased to share these findings with the epilepsy
community, and are gratified to be able to illustrate that it is
possible to take a comprehensive approach to exploring
opportunities for potentially repurposing approved drugs in the
treatment of severe genetic epilepsies," said David Goldstein,
PhD, Founding Scientist.
Pairnomix is working on additional cases and is proud of its
ongoing collaboration with the KCNQ2 Cure Alliance to bring its
highly personalized genetic evaluations to physicians for
individuals living with KCNQ2 epileptic encephalopathy.
What is SCN8A?
SCN8A is a gene encoding
the alpha-8 subunit of the Nav1.6 sodium channel. For more
information, please reach out to the Cute Syndrome
Foundation.
About the Case Study
The individual was diagnosed with
early infantile epileptic encephalopathy combined with global
developmental delay and experienced lack of seizure control even
after being prescribed many common anti-epileptic drugs (AEDs). The
patient's physician ordered next-generation sequencing services,
and a de novo mutation in the SCN8A gene was
identified.
High throughput screening with more than 1,300 approved drugs
identified 90 which significantly inhibited the gain-of-function
phenotype conferred by the patient's mutation. These drugs may be
potential therapeutic options for physicians to consider when
evaluating patients with this specific mutation.
About Pairnomix
Pairnomix™, a genetic research
company, is committed to helping people living with rare diseases
understand the genetic cause of their condition. Pairnomix' initial
focus is to provide personalized research for people living with
epilepsy and other disorders of the Central Nervous System. To
learn more, please visit www.pairnomix.com.
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SOURCE Pairnomix, LLC