Invitae Chief Medical Officer Dr. Robert Nussbaum recognized for innovation in epilepsy diagnosis

Joseph Sullivan, MD, Epilepsy Foundation of Northern California Board Chair

Each year, the Epilepsy Foundation of Northern California’s Innovation Award honors an outstanding individual who has made exceptional contributions and conducted innovative work in epilepsy research, diagnosis, and treatment.

We are pleased to announce that this year’s recipient is Invitae Chief Medical Officer Dr. Robert Nussbaum. Dr. Nussbaum’s work and success in the development of genetic testing at Invitae enables patients with epilepsy to receive better and faster care than ever before.

Thanks to Dr. Nussbaum’s research and innovative thinking, we have a strong foundation on which future research and advances will be based.

The Epilepsy Foundation of Northern California is a 501(c)(3) charitable organization leading the fight to overcome the challenges of living with epilepsy. Its mission is to provide education about epilepsy, support those with epilepsy, and encourage more high-quality research to better understand the unanswered questions about epilepsy.

 

Invitae’s epilepsy offering

More than half of all epilepsies have a genetic basis, making early genetic testing one of the most direct, cost-effective, and accurate diagnostic tools.1 A recent study found an overall 40% diagnostic yield for genetic testing of early-life epilepsies, concluding that genetic testing should be part of a routine initial evaluation of early-life epilepsy.2

The Invitae Epilepsy Panel offers a broad and comprehensive analysis for inherited epilepsy, with up to 180+ genes associated with both syndromic and non-syndromic causes of epilepsy, including neurodegenerative conditions. The Behind the SeizureTM testing program—a partnership between Invitae and BioMarin—offers no-cost testing for children 2 to 4 years of age, who experienced their first unprovoked seizure after the age of 2 years.

Identifying the genetic roots of epilepsy can shorten the diagnostic odyssey and impact clinical management.

1. Pal, DK et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-53.
2. Berg, AT et al. Early-life epilepsies and the emerging role of genetic testing. JAMA Pediatr. 2017;171(9):863-71.