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PacBio and Invitae Team Up to Develop Whole Genome Sequencing-Based Assays for Pediatric Epilepsy Diagnostics

Thursday, October 22, 2020

We’re excited to announce a research collaboration with Invitae focused on the investigation of clinically relevant molecular targets for use in the development of advanced diagnostic testing for epilepsy. To support this collaboration, Invitae is expanding its PacBio sequencing capacity to meet the growing demand for clinical applications dependent on highly accurate genomic information.

More than half of epilepsies can be traced to a genetic cause. When a child presents with seizures, genetic testing can help identify more than 100 underlying, often rare conditions. Early genetic testing may be the most cost-effective, direct, and accurate diagnostic tool for children, shortening lengthy diagnostic odysseys. Delays in diagnosis can be devastating for children, as some genetic epilepsies are neurodegenerative and early symptoms may be subtle and easy to misdiagnose.

The Behind the Seizure program is a prominent collaborative program established by BioMarin and Invitae that was developed to provide faster diagnosis for young children with epilepsy in many regions around the world. Participants in the Behind the Seizure program are diagnosed one to two years sooner than reported averages.

The first phase of our research collaboration is focused on a whole genome sequencing study of a large pediatric epilepsy patient cohort derived from the Behind the Seizure program. HiFi sequencing will be performed to generate comprehensive variant profiles used to investigate the genetic etiology of epilepsy. The research is intended to accelerate Invitae’s development of assays to help patients who have been unable to get a diagnosis with conventional short-read sequencing technologies and facilitate improved treatment options based on specific genetic targets.

In a statement announcing this news, Invitae Chief Medical Officer Robert Nussbaum said: “Through this research collaboration with PacBio, Invitae aims to develop innovative methods that will provide more accurate answers to individuals living with epilepsy and their healthcare providers.”

Our CEO Christian Henry added: “We are honored to partner with Invitae, a recognized leader in genetics, to co-develop methods that have the potential to support earlier genetic testing and intervention to aid treatment selection for millions of people living with epilepsy worldwide. Working with leading organizations such as Invitae is an important part of our strategy to accelerate the use of our highly accurate long-read sequencing platform in large-scale whole genome sequencing initiatives.” 

 

Learn more about the benefits of PacBio whole genome sequencing and discover how highly accurate long reads can advance your neuroscience research

 

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