Hometown: Waterloo, Iowa

Alma Mater: William Penn University, University of Northern Iowa,

Gene Mapping Autosomal Recessive Idiopathic Generalized Epilepsy

Epilepsy is a very common disorder that is estimated to affect 3% of the world's population. However, only approximately 50 genes have been linked to all forms of epilepsy. This is partly due to the fact that epilepsy is a complex disease, and can be sporadic, where the affected has no relatives with epilepsy. Another difficulty is that epilepsy does not always run "true" in families (two siblings may have different forms of epilepsy), which complicates gene discovery. Gene discovery is usually done in rare, autosomal dominant families, and the genes found mutated in these families have not proven to have mutations in general population epilepsy.

My research involves five large, unrelated families. All five families are remarkable for autosomal recessive childhood epilepsy, which is sometimes accompanied with other symptoms like ataxia. All families are consanguineous, which allows for using homozygosity mapping to identify the genes with mutations in each family.

My work is supported through a generous grant from the Epilepsy Foundation.