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Rhombencephalosynapsis Research
at the
University of Washington and Seattle Children’s Hospital

 

We are recruiting patients with rhombencephalosynapsis (RES) and their families to participate in a research study to identify the genetic causes of RES. The study involves collecting DNA samples from the individual with RES and their family members and then testing the DNA for genetic differences using advanced technologies. Identifying the causes of RES will provide better diagnostic and prognostic information to families in the future and will improve our understanding of brain development. As with any genetic study, there is no guarantee that we will identify the cause of RES in any given participant; however, if we do identify a cause, we will be able to release these results to participants and their medical providers.

Participation in the study involves the following steps:
1) Review of the participant’s brain MRI to ensure that they qualify for the study
2) Brief family interview and consent discussion
3) Giving permission for us to obtain medical records
4) Giving a sample: 2 small tubes of blood (participants with RES and their siblings) or saliva (parents)

If you are interested in participating or getting more information, please contact:
Jennifer Dempsey, MPH
joubert@uw.edu
206-616-3788
1-800-246-6312

Sincerely,

Dan Doherty, MD/PhD
Assistant Professor
Divisions of Genetic and Developmental Medicine
Department of Pediatrics
University of Washington School of Medicine

 

 

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