Year entered the Ph.D. Program: Fall 2016
Research Advisor: Michael Hammer
My research focuses on SCN8A-epileptic encephalopathy and related disorders in children.
I am a genetic researcher interested in understanding the pathophysiology of epilepsy, a chronic disorder of the brain that affects people of all ages and geographic origins. This interest led me into my current line of research, which focuses on a voltage-gated sodium-channel gene (SCN8A) that is implicated in an epilepsy syndrome in children. It is the third most common neurological disease in adults after stroke and Alzheimer’s disease, and is the most common neurological disease in children. Epilepsy affects approximately 750,000 children in the United States and about 16% of these children suffer from severe forms of epilepsy beginning in infancy. Epilepsies that begin early in life are especially devastating, many resulting in global developmental delays, motor and speech deficits, intellectual disability, and intractable multi-form seizures with a high risk of sudden death (SUDEP). Variants in a large set of genes have been discovered to cause these early onset forms of epilepsy, known as Early Infantile Epileptic Encephalopathies (EIEE), several of which involve voltage-gated ion channels. SCN8A encodes the voltage-gated sodium channel Nav1.6, which plays a critical role in regulating neuronal excitability. When a patient is diagnosed with SCN8A epilepsy, one of the greatest challenges for clinicians is to predict the severity of a variant, and to prescribe the best medications for the case at hand. This uncertainty is extremely stressful for parents as there is no way to know how this variant will affect their child. To make matters worse, conventional and newer anti-epileptic drugs control seizures in only a small handful of children with EIEE, so parents are often left feeling helpless.
To help these families and to further our understanding of SCN8A-related disorders, the Hammer lab has established a community website to house and collect self-reported data from families with a child with an SCN8A variant. Two of my major aims are to use data obtained from a previously administered 8-part questionnaire to: 1) create or improve existing mathematical and statistical models to enhance researchers’ and clinicians’ ability to predict the severity of a SCN8A variant and to better mitigate the symptoms of the variant; and 2) investigate the phenotypic trends of specific recurrent variants and determine the most influential variable influencing this outcome.