Genetics of a rare skull formation disorder

Chiari [key-AH-ree] malformations happen when your brain does not all fit in your skull. Your skull may be too small. Or, it is not shaped right. So, part of your brain goes into your spinal canal. This is the space in the middle of your backbone. There are three types. Type 1 happens as the skull and brain are growing. So, you might not notice the signs until you are a teenager or adult. Types 2 and 3 occur before we are born. In type 2, more of your brain goes into the spinal canal. Type 3 is the most severe. And the most deadly.Many people with type 1 have no signs. And they do not need treatment. They may never know they have it. But in some, it can cause problems. These include neck pain, vision or speech problems. You may also feel dizzy. Or have trouble with your balance. You could also have numbness in your hands or feet. Or poor hand-eye coordination.Scientists at Vanderbilt University Medical Center will use BioVU to study type 1. They will look for patients with and without type 1. Then they will look for gene changes. They will compare gene changes in the two groups. They think that some gene changes will only be in the patients with type 1. The goal of this work is to learn more about type 1 Chiari malformations. We may not learn much. But, the results will help the researchers know what to do next.