Research

A Genomic Approach to Epilepsy

Epilepsy is one of the most common neurological disorders in humans, with a prevalence of ~1% and a lifetime incidence of up to 3%. Epilepsy is characterized by recurrent seizures due to abnormal, synchronized neuronal firing in the brain. Although it has long been known that epilepsy has a strong genetic component, the epilepsy genes discovered to date explain only a small fraction of disease. In this project, we are working to identify novel genetic causes of the most severe forms of epilepsy, the epileptic encephalopathies. We use state-of-the-art technologies including array comparative genomic hybridization, exome sequencing and targeted candidate gene resequencing to find mutations that cause disease. Using this combination of genomic approaches, we hope to identify new genes and pathways important in brain development and epileptogenesis.

If you are interested in participating in our research, please contact us at DNAstudy@uw.edu or 206-616-3788. Consent forms for epilepsy research are below.

Genotype-phenotype studies of novel genomic disorders

Since the introduction of array CGH and SNP microarrays - technologies that allow genome-wide detection of copy number variants (CNVs) - the discovery of novel genomic disorders has increased rapidly. Between 2006-2009, at least 18 novel recurrent disorders have been described. These include rearrangements of 1q21, 15q13, 15q24, 16p13, 17q12 and 17q21. Interestingly, some genomic rearrangements are associated with a wide range of neurocognitive and neuropsychiatric conditions, ranging from mild learning disabilities to epilepsy to schizophrenia. We are interested in understanding the range of phenotypes associated with novel genomic disorders and studying the genetic and epigenetic modifiers that influence clinical outcome.

Gene Discovery in Pediatric Disorders

The genomic technologies that our lab uses can be used to identify genetic causes of many different conditions. Our work focuses on congenital anomalies and other pediatric disorders. We have investigated a variety of conditions, including craniosynostosis (premature fusion of the skull bones), congenital diaphragmatic hernia, brain malformations, multiple congenital anomalies, and various prenatally detected birth defects.