Cypher researchers identify new genetic cause of severe epileptic encephalopathy

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.”

Comments

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.

While we only use edited and approved content for Azthena answers, it may on occasions provide incorrect responses. Please confirm any data provided with the related suppliers or authors. We do not provide medical advice, if you search for medical information you must always consult a medical professional before acting on any information provided.

Your questions, but not your email details will be shared with OpenAI and retained for 30 days in accordance with their privacy principles.

Please do not ask questions that use sensitive or confidential information.

Read the full Terms & Conditions.

You might also like...
Genetic insights into reproductive health and longevity