Who can participate?
Our lab studies the genetic causes of certain neurodevelopmental surgical brain disorders. Most of these disorders present early in development therefore majority of our participants are children and their parents.
We rely on affected individuals and their immediate families to volunteer and participate. Currently we are recruiting for individuals affected with:
Normal Pressure Hydrocephalus
Idiopathic Intracranial Hypertension/Pseudotumor Cerebri
Vein of Galen Malformations
Adults and children affected by these types of developmental brain conditions, as well as their immediate family members, are invited to participate in our research. We are able to enroll interested individuals and families from around the world. Please see the Studies page for the project you are interested in for more details on participation.
What are the steps?
Fill Out Primary Survey
All participants in your family will receive an email with an additional survey or a paper survey in the mail in order to provide additional family and medical information.
Provide Participant Information
Complete the intake survey above if you would like to participate in one of our studies. This information will enable us to send you additional forms and saliva tubes/mouth swab kits to collect medical information and genetic samples.
All participants in your family will receive a package with these items:
1. Saliva tube/mouth swab kits
2. Consent forms
3. Pre-paid return envelope
Every participant should read and sign the consents and swab themselves - the videos below might be helpful. Then drop off the pre-paid return envelope to a FedEx box or store the SAME DAY YOU COLLECT SALIVA OR SWAB.
How long does the study take?
We continuously collect samples until we have enough to begin analyzing our data, a process that could take up to a year or longer.
Will I find out if I have a genetic mutation?
If we find that you have a gene mutation that we believe to be connected to a neurosurgical disorder, we will send the information directly to the doctor of your choice. Please keep in mind that we are only able to send results once the study is published, and can only send them to a physician.
What happens to my sample?
We isolate DNA from your swab samples and use a technique called whole exome sequencing to read the genetic code, looking for alterations that could explain or contribute to disease. The data and samples are stored with no identifying information in a HIPAA-safe way and are not available to anyone outside of the Kahle Lab.
What happens to the forms I fill out?
The information on your forms is uploaded to our secure database by a lab member and coupled to your swab by a non-identifying code. The forms are then stored in locked cabinets in the Kahle Lab office and are not available to anyone outside of the Kahle Lab.
What if I change my mind?
As with any research program, your participation is voluntary and you may stop participating at any time. Just let us know by email and we will destroy your samples and any information you provided for the study.