EGI
For Researchers
EGI for Researchers   |   About the Data   |   Data Access   |   FAQ

EGI for Researchers

EGI is a database that contains de-identified exome sequence data from people with epilepsy and the accompanying de-identified clinical information. The goal of EGI is to collect data on a minimum of 1000 people with epilepsy who have had their exomes sequenced in a diagnostic lab and make these data available to advance research in epilepsy and other related conditions.

Efforts are also being made to link EGI with other existing databases that contain patient data in an effort to make EGI a more data-rich tool for researchers to use.

data collectedAbout the Data in EGI

EGI will house raw exome sequence data files (BAM/FASTQ) and the following clinical information, which will be provided by the person’s doctor:

  • Demographics (date of birth, age, gender, race and ethnicity)
  • Family history of epilepsy and other relevant medical conditions
  • Birth and neonatal history
  • Epilepsy history (risk factors, age of first seizure, seizure type(s), EEG results and neuroimaging results)
  • Development/cognition information (development delays, IQ)
  • Other medical conditions that are present in the patient
  • Abnormal genetic or metabolic testing
  • Epilepsy classification, syndrome, etiology, response to treatments and outcome
  • Is the patient in any other databases/studies? (e.g. Epi4K, EPGP, PERC, REN, etc.)
  • Info on who is completing the form/date

Data Access

In late 2015, the EGI data will be available to researchers via application to the EGI Access Committee. Applications to request the data will be made available on this website when the data becomes available.

FAQ
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What will the EGI Investigators do with the data?

Once the data are obtained from the sequencing laboratory, EGI investigators will evaluate the data using the most cutting edge DNA analyzing methods in the field. EGI investigators will then re-analyze the data in the repository on a regular and ongoing basis. Reanalysis is critical in order to make use of the most up-to-date new findings in epilepsy genetics as the EGI investigators seek to identify the genetic causes of epilepsy in each and every individual included in EGI.

What type of research will the EGI Access Committee grant access for?

All applications that seek to advance research in epilepsy and related conditions will be encouraged.

Is there a possibility that additional clinical data or biological samples can be collected from patients if needed?

When obtaining consent, patients will be asked if they would like to be re-contacted, in the future, to provide additional de-identified information to researchers. Those patients that agree to this, may be re-contacted through appropriate channels and asked if they would like to participate in a new research study apart from EGI.

Will CURE offer funding opportunities to researchers around projects related to the EGI data?

Currently there are no funding opportunities available from CURE for projects associated with the EGI data. Should this change, announcements will be made on the CURE website and via CURE eBlasts to researchers. If you would like to sign up to receive CURE research eBlasts, please email Liz Higgins at Liz@CUREepilepsy.org.

Once I have access to the data, do I have to report anything back to the EGI team?

The EGI Access Committee will track use of the data in EGI and any publications that result from the Initiative. This will enable us to measure EGI's impact on the field of epilepsy, while also preventing duplication of efforts (except when scientific replication is warranted).

 

 

 

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CURE
CURE Citizens United for Research in Epilepsy is a nonprofit organization dedicated to finding a cure for epilepsy
by raising funds for research and by increasing awareness of the prevalence and devastation of this disease.
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