Cypher Genomics Identifies and Verifies Genetic Cause of Rare Disease, Epileptic Encephalopathy
SAN DIEGO – October 20, 2014 – Cypher Genomics, Inc., the genome informatics company, announced today the identification of de novo KCNB1 missense mutations as a novel genetic cause of severe epileptic encephalopathy. Cypher’s co-founder and Chief Scientific Officer Ali Torkamani, Ph.D. reviewed the data today at a platform presentation at the ASHG 2014 meeting being held October 18 to 22 in San Diego. This study highlights how Cypher’s MantisTM technology, which incorporates commercial access to the Scripps Wellderly Cohort as a genome reference population, can rapidly and accurately identify novel causes of rare diseases.
“Rare diseases disproportionately affect children, and families are left with unanswered questions and monumental medical bills in seeking a diagnosis,” said Ashley Van Zeeland, Ph.D., co-founder and Chief Executive Officer of Cypher Genomics. “Accurate genome analysis and interpretation has historically been a time consuming and manual process. We developed Mantis to address this unmet need in order to rapidly and accurately find the underlying genetic causes of disease.”
The data presented today describes an 8-year-old female patient who presented with a sporadic severe partial seizure disorder and a complex and unusual medical history of neurologic disorder, which did not fit any diagnostic category. A family-based genome sequencing study was performed including whole genome sequencing and whole exome sequencing.
Researchers utilized Mantis to identify a de novo missense mutation in KCNB1 that encodes the KV2.1 voltage-gated potassium channel as the potential cause of the patient’s disorder. This was further verified and confirmed by functional studies showing a deleterious effect of the mutation on KV2.1 function leading to a loss of ion selectivity and gain of a depolarizing inward cation conductance. Subsequently, two additional patients with epileptic encephalopathy and de novo KCNB1 missense mutations that result in a similar pattern of KV2.1 dysfunction were identified.
“While each rare disease only affects a small group of patients, millions of patients around the world are affected by a rare disease, and many never receive a definitive diagnosis,” said Dr. Van Zeeland. “Cypher’s Mantis technology was developed to help clinicians give patients and families an answer to what is causing their disease and what treatments may help.”
For researchers and clinicians, Cypher is launching a limited-time, trial access program, called Mantis 5-for-5. To learn more and sign up, visit Cypher at ASHG 2014 at booth #1525 or click here. In addition, Cypher has a second platform presentation tomorrow. Abstract 317: Frequency of “ACMG-56” Variants in Whole Genomes of Healthy Elderly will be presented by Lauren Ariniello on Tuesday, October 21 from 10:30 am to 12:30 pm in Room 29, upper level of the San Diego Convention Center.
About Cypher Genomics
Cypher Genomics is a leading genome informatics company offering a highly accurate, rapid and robust interpretation software solution for users of human genome sequencing. The proprietary, automated genomic interpretation platform allows clinical laboratories to tune Cypher Genomics’ market leading sensitivity and specificity profiles to develop molecular tests for diagnostic and prognostic use and pharmaceutical companies to discover biomarkers from whole genome sequence data in sample sizes typical of early stage drug development studies. Through MantisTM, the genome interpretation software as a service offering, and CoralTM, a biomarker discovery service, Cypher Genomics can improve health care and reduce costs by facilitating improved diagnostic accuracy and earlier interventions, optimizing therapeutic approaches and reducing adverse drug reactions. Cypher Genomics is located in San Diego, California.