Epilepsy Genetics Initiative

Ambry is a proud partner of the Epilepsy Genetics Initiative (EGI), which launched on April 27, 2015. Learn more here.

What is EGI?
The Epilepsy Genetics Initiative (EGI) is a research program sponsored by the Citizens United for Research in Epilepsy (CURE). EGI is a database that contains genetic information about people with epilepsy that can be used for research purposes, with the goal of understanding genetic causes of epilepsy.

If a person with epilepsy has a specific genetic test, called exome sequencing, at a testing (diagnostic) laboratory that does not find the cause of his/her epilepsy, the results/data from their exome sequencing test can be securely transferred to EGI so epilepsy researchers can further study it. Anything EGI finds that is relevant to a diagnosis is reported back to the person’s doctor.

Who is eligible to be part of EGI?
Anyone with any type of epilepsy that has had exome sequencing done in a diagnostic laboratory can be part of EGI. People of any age, or in any country, can be a part of EGI. Participation in EGI is completely optional.

Why would I want to be a part of EGI?
Two out of three people with epilepsy don’t know the specific cause (or causes) of their condition. Advances in genetics are helping to improve that. To speed up the process of discovery, exome data from many people with epilepsy must be studied together. Finding the genes that cause epilepsy could lead to improved treatments and potentially a cure.  

For more information about CURE’s epilepsy genetics initiative (EGI) enrollment, please visit: http://www.cureepilepsy.org/egi/index.asp

For questions about Ambry’s exome sequencing and EGI, please contact Amanda Bergner at abergner@ambrygen.com