Ongoing Clinical Studies
The Epilepsy Genetics Initiative
Aim: To provide trio whole genome sequencing for patients with epilepsy where the cause remains unknown after genetic workup
Inclusion (all must be met):
- Child or adult with epilepsy diagnosed in infancy or early childhood
- Previous CMA and TRIO WES* with negative or inconclusive results
- Both biological parents and child must be available and willing to provide samples (blood for WGS and skin biopsy for RNA-seq)
Exclusion:
- Evidence of infection, trauma, or stroke as possible etiologies for epilepsy
Application: Clinicians encouraged to discuss with family and either one can complete an online survey at: https://redcap.link/epilepsy
Study contacts: Dr. Hsiao-Tuan Chao, MD, PhD
*We will consider negative proband WES cases if re-analysis was recently completed, but we will prioritize negative trio WES cases
The Texome Project
Aim: To provide proband/trio exome sequencing for families with undiagnosed diseases who cannot otherwise afford or have access to this testing
Inclusion:
- Child or adult with a rare condition of unknown cause but suspected genetic etiology AND at least 1 of the following:
- Insurance denial for genetic testing
- Public insurance such as Medicaid
- Incomplete or total lack of insurance coverage
Exclusion:
- Previous genetic diagnosis
- Previous WES or WGS completed in the last 2 years
Participant Compensation: $100 if patient completes all 5 study appointments (virtual options available)
Application: Clinicians encouraged to discuss with family and either one can complete an online survey at: https://redcap.link/texome-project
Study contacts: Ryan German and Dr. Michael Wangler, MD
The Brain Gene Registry
Aim: To provide patients with variants found in suspected ID/Autism genes an opportunity to advance knowledge on the relationship between genetic changes and human disease by enrolling in a national patient registry
Inclusion (all must be met):
- Child or adult with a confirmed (P/LP/VUS) variant in at least 1 priority gene* suspected to cause ID/Autism
- Access to a web-based device with a video camera and microphone
- Ability to complete a video appointment with virtual neuropsychological assessment
Exclusion:
- Non-English speakers (for now, likely to change in the future)
Participant Compensation: $100 if patient completes all 2 study appointments (both virtual)
Application: Clinicians encouraged to discuss with family and contact study members below
Study contacts: Ryan German and Dr. Michael Wangler, MD
*There are currently 55 priority genes curated from ID/Autism panels, and more may be added over time. It is not necessary to remember which genes are on the list. If a patient receives a positive or VUS result in a suspected ID/Autism gene and little information is known about the gene, they are likely a good match for this study.