Most people don’t know the cause of their epilepsy,
but genetics is changing that.
How is genetic research
leading to personalized medicine?
DNA is the genetic material in each of us that makes us who we are. Your DNA is made up of genes (about 20,000 of them). Each of your genes carries a unique DNA code, and that code is what determines your traits (such as eye color, size, and even behavior).
DNA changes happen all the time in living things, and this alters the genetic code. But sometimes a change in the genetic code can have negative consequences, like developing a medical condition such as epilepsy.
Dozens of altered genes have already been identified in people with epilepsy, but most don’t know the cause of their seizures or if they are genetic. That’s where EGI comes in. In some cases, we can use genetics to identify the different causes of epilepsy.
Why do we want to know the cause? Because knowing the cause of your epilepsy can already shed some light on which drugs might or might not be right for you (in some cases). But ultimately, we believe this type of information will help doctors figure out which treatment works best for the different kinds of epilepsy and that knowing causes will ultimately help us find cures.
Currently, people with epilepsy may have their DNA sequenced through their doctor via a certified lab. This testing looks for changes in their DNA code that may be causing their epilepsy. The kind of testing we are talking about is called 'exome sequencing.' This test looks at the code in all the genes in your body and reports back on any relevant findings.
But, during this testing, the data are typically analyzed only once by the lab and only genetic changes proven to cause epilepsy at the time of reporting are shared. This means that any newly identified genetic causes of epilepsy will not be reported.
To address this, CURE has created EGI. EGI is a database where patients, with the help of their doctors, can send their exome data and have them analyzed and reanalyzed in an effort to find the cause of their epilepsy. Any important findings will be reported back to the patient’s doctor. But EGI doesn’t stop there. EGI will also allow patients to participate in research that will help scientists find new causes of epilepsy. This is done by allowing researchers to study all the DNA codes we collect in EGI (all confidentially of course).
With the ability to study a lot of people’s DNA, researchers also want to determine things like which drugs are best (and worst) for the different kinds of epilepsy, and why some people with epilepsy have coexisting conditions like depression and learning and memory problems. This is a major goal of EGI – to advance research in epilepsy.
In the end, everybody wins.
EGI brings together patients, medical professionals and scientists – with patients leading the way. The goal? To create a mutually beneficial partnership that will improve the diagnosis and treatment of people with epilepsy in a way that leads us to cures.
EGI was created for patients, doctors and researchers; we have assembled frequently asked questions (FAQs) that cater to each specific audience. Click below to find the FAQs most relevant to you:
About the Data Being Collected in EGI
Upon consent from the patient, EGI will collect exome sequence data directly from the certified diagnostic lab that has done the testing. In addition, the patient’s doctor will fill out the EGI Clinical Data form. The de-identified* personal health information to be collected by EGI includes:
*All personal health information will be confidential (de-identified, all the identifying information will be removed). Each patient will be assigned a research number and only that number will be associated with the patient’s data. All data will be collected in a secure, fully compliant manner and in full accordance with the laws.
EGI Organizational Structure
Origins of EGI: EGI was born out of discussions between CURE, the National Institute of Neurological Disorders and Stroke (NINDS), and the EGI Investigators, Sam Berkovic, David Goldstein, Erin Heinzen Cox, and Dan Lowenstein. The goal was to find a way to bridge the gap between the need for patients to have their exome data repeatedly analyzed and the important contribution these data could make to further epilepsy research.
How is EGI Governed? Below is a diagram that depicts how EGI is structured and a description of what each committee does:
This committee will provide big picture guidance on all aspects of the project including, but not limited to, future growth strategies, organizational structure, EGI goals and EGI policies and procedures. The Steering Committee is made up of members of CURE and NINDS.
The Steering Committee is working to establish an Oversight Committee made up of 5-10 members who are not a part of the EGI project but have relevant expertise. Expertise may include, but is not limited to, statistics, genetics, neurological disorders, bioinformatics, legal aspects of data repositories and industry. Advisors may be consulted on any number of issues relevant to EGI including, but not limited to, overall strategies for the growth and longevity of EGI, EGI structure and function, prioritization of project goals, implementation of policies and procedures, conformance with regulatory provisions and data sharing.
EGI Access Committee
CURE is working to establish an independent EGI Access Committee (EAC), which it will oversee. The EAC will evaluate requests seeking access to the data and will evaluate proposals for publications making use of EGI data. The EAC will be responsible for the transparency and integrity of the data in the repository and the avoidance of conflicts of interest. The EAC will carefully track all EGI-related research and publications in order to prevent duplication of efforts as it relates to research using data in the EGI repository. The EAC will be made up of members of CURE’s Research Team and other outside advisors.
Members of this committee are the stewards of EGI and act as a checkpoint to ensure that EGI activities conform to any agreed-upon universal protocols, follow regulatory provisions and maintain data confidentiality. The Administrative Groups, listed below and overseen by the EGI Investigators, provide this committee with the needed information to act as appropriate stewards. The Administrative Committee includes members of the CURE Research Team and the EGI Investigators.
This group reports to the Administrative Committee and oversees all matters of data collection, entry, storage, quality control and processing as it relates to EGI. The Data group also oversees the initial and biannual analysis of the EGI data set for potential disease causing variants.
This group reports to the Administrative Committee and oversees all matters of enrolling patients in the study, partnering with medical centers and facilitating collection of the genetic and phenotypic data.
Patient Reporting Group
This group reports to the Administrative Committee and oversees all matters of reporting data to patients including de-identification of all data, determination of what is to be reported (pathogenic variants) and reporting findings back to the patient’s doctor.