Invitae, PacBio Collaborate on Epilepsy Diagnostics Development

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EEG with electrical activity of abnormal brain, electroencephalogram,EEG
[Source: chaikom/Getty Images]

Genetic Testing company Invitae and long-read sequencing provider Pacific Biosciences of California (PacBio) announced the launch of a research collaboration focused on the identification of clinically molecular markers to be used for the development of advanced epilepsy diagnostics. As a result of the collaboration, Invitae will expand its PacBio sequencing capacity to support this new area of testing.

Long-read sequencing has come to the fore as a complementary technique to short-reads for the diagnosis of rare genetic diseases. Currently, less than 50% of genetically driven diseases can be identified using short-read sequencing techniques. In cases where the cause of a rare disease remains unknown, long-reads can often find variants undetected by conventional techniques in hard to sequence regions of the genomes, or variants that are also hard to sequence.

Epileptic seizures are a common symptom of rare genetic diseases and genetic testing can help identify more than 100 of these underlying, often rare conditions. Identifying these conditions as soon as possible after seizures begin can have a significant impact on the overall health of person over their lifetime, as some genetic epilepsies are neurodegenerative. Given that the symptoms of some of these rare diseases may be subtle and difficult to diagnose, developing novel diagnostics to provide an early diagnosis can have major clinical implications.

“It is estimated that nearly 50 million people are living with diagnosed epilepsy worldwide, but the underlying cause remains unknown for approximately half of these individuals,” said Robert L. Nussbaum, M.D., chief medical officer of Invitae in a press release. “Identifying the many underlying genetic causes of epilepsy is becoming increasingly critical to overall clinical management and prognosis.”

The research collaboration with PacBio will be a part of Invitae’s Behind the Seizure program, a cross-company collaboration that has a goal of increasing access to genetic testing in the United States and Canada for children who experience unprovoked seizures in childhood. The program was established by BioMarin and Invitae and now boast a range of biotech companies including Biogen, Encoded Therapeutics, Neurocrine Biosciences, Neurogene Inc., Praxis Precision Medicines, PTC Therapeutics, Stoke Therapeutics, Taysha Gene Therapies, and Xenon Pharmaceuticals.

The first phase of the new research collaboration will be a whole-genome sequencing study of a large pediatric epilepsy patient cohort, derived from the Behind the Seizure program. Sequencing will be performed using PacBio’s, long-read SMRT Sequencing technology, known as HiFi sequencing, to generate comprehensive variant profiles used to investigate the genetic etiology of epilepsy. Invitae will leverage these profile to develop of assays to help patients that have been unable to get a diagnosis with conventional short-read sequencing technologies and facilitate improved treatment options based on specific genetic targets.

“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,” said Christian Henry, Chief Executive Officer of PacBio. “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.”

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