EGI
EGI is governed by representatives from CURE, representatives from Columbia University, EGI Principal Investigators Sam Berkovic (University of Melbourne), Erin Heinzen (Columbia), David Goldstein (Columbia), and Daniel Lowenstein (UCSF), and is in partnership with the National Institute of Neurological Disorders and Stroke (NINDS).

Overview

EGI is an initiative created to bridge the gap between people with epilepsy, clinicians, and researchers and advance precision medicine in epilepsy. EGI has created a centralized database to hold the genetic (whole exome) data of people with epilepsy.
The exome data will be reanalyzed until the cause of the person’s epilepsy is found. Any positive findings will be reported back to the person's doctor for further confirmation and will then be shared with the patient and their family.
The data will also be made available to researchers to advance the understanding of epilepsy.
It is also important to note that the field of epilepsy genetics is rapidly changing, as our understanding of new genes associated with causing epilepsy are being identified regularly. Therefore, the consistent reanalysis of data within EGI provides an opportunity to have exome results analyzed every six months to determine if a previously unknown mutation (variant) may actually be a cause of a person’s epilepsy.
For more information, CONTACT US at:
EGI@CUREepilepsy.org
1-844-EGI-CURE
English  English  |  Italian  Italian
EGI is governed by representatives from CURE, representatives from Columbia University, EGI Principal Investigators Sam Berkovic (University of Melbourne), Erin Heinzen (Columbia), David Goldstein (Columbia), and Daniel Lowenstein (UCSF), and is in partnership with the National Institute of Neurological Disorders and Stroke (NINDS).