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Dravet Genome Study

This study will explore the diverse spectrum of outcomes that occur within Dravet syndrome and other SCN1A-related epilepsies using genetic analyses and medical histories.

Study FAQs

How to Sign Up

If you or someone you love has an SCN1A-related epilepsy and you want to learn more about participation, email scn1a@chop.edu with the following information: 

  • Patient’s name
  • Patient’s age
  • Where your family is located

The study staff at CHOP will walk you through the consent process and procedures in detail. Participation will require an at-home cheek swab using a kit the study staff will send to you. Once collected, you will ship the kit back to the study team for them to process the sample. 

Research Study Leads:

  • Ingo Helbig, MD
  • Ethan Goldberg, MD, PhD

Study Team:

  • Sarah Tefft, MSN, RN CRNP, CPNP-PC: Nurse Practitioner
  • Anna Jenne Prentice, MS: Genetic Counselor
  • Johanna Mercurio, BS, BSFCS: Clinical Research Coordinator
  • Arjun Pillai: Research Student

Download the flyer in English

Descargar este folleto en Español

Help shape the future of Dravet syndrome

The Dravet Genome Study is a health research project launched by Children’s Hospital of Philadelphia (CHOP) and funded by DSF. The Dravet Genome Study will explore the diverse spectrum of outcomes that occur within Dravet syndrome and other SCN1A-related epilepsies using genetic analyses and medical histories. A very frequent topic of discussion in the community is how patients may differ in response to medications, severity of symptoms, and long-term outcomes despite having similar or even identical mutations in the SCN1A gene. This project aims to shed more light on other genetic factors that may impact this spectrum of outcomes. 
 
DSF chose to direct $1M (our largest grant to-date!) to support this research effort because it focuses on a topic of high interest to the patient-family community. The hope is that insights from this research may help us understand more about Dravet syndrome in ways that could improve clinical care in the near-term. Additionally, beyond the immediate research questions this project aims to answer, it is also creating a database of genetic and clinical data that can be added to and reanalyzed in the future.
 
This initiative aims to collect samples from 500 patients with SCN1A-related epilepsy for whole genome sequencing. This genetic data will then be paired with clinical data from medical records using new and innovative methods developed by the researchers at CHOP to transform clinical information into a format that can be used to investigate research questions.

Enrolling Now!

The Dravet Genome Project aims to enroll 500 participants with Dravet syndrome or a related epilepsy who have a confirmed mutation in the SCN1A gene. Participation involves an at-home cheek swab and collection clinical information from medical records. 

  • Participants of any age are accepted.
  • At this time, participation is only open to those currently residing in the United States.

Email scn1a@chop.edu with your loved one’s name, age, and location if you are interested to learn more or participate.

Help us Reach 500 Samples!

40%

This website is made possible through educational grants from our partners. Partners did not have a role in developing content. The information you obtain at this site is not intended to be medical advice, please read our medical disclaimer. Thank you to:

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