I am a researcher at the University of Arizona specializing in human genetics. In 1996, my beautiful daughter Shay was born. We soon found out that Shay suffered from a rare and undiagnosed epilepsy syndrome. It took 15 years before we discovered the cause of Shay's epilepsy- thanks to some dedicated researchers in my lab we found a mutation in the SCN8A gene. Now we know that mutations in SCN8A are the cause of seizures and developmental difficulties in many children.
Our goal is to gather as much medical and genetic information as we can to help doctors and researchers find new treatments for this devastating disorder. The SCN8A Community Website and Registry represent the fruits of labor of many devoted people, and it offers us all the opportunity to participate in an concerted effort to improve the lives of our children and our families.
I am a Ph.D. student in the Graduate Interdisciplinary Program for Genetics at the University of Arizona. I first became interested in seizures and epilepsy when my dad started having them a year ago. It was at that time when I started looking into epilepsy research and came across Dr. Hammer's work with SCN8A epilepsy. After learning more about SCN8A epilepsy, I've become very passionate about researching this gene and cracking the code on SCN8A.
I am an engineering graduate and web developer at the University of Arizona. I started working with Dr. Hammer in late 2015, and my role is to design, develop, and maintain web applications for the SCN8A Community website. My personal goal is to provide tools to patients and doctors and to create resources for all people who are working to make life better for those who suffer from SCN8A-related disorders.
I am Senior Programmer for University of Arizona Health Sciences Center for Biomedical Informatics & Biostatistics. I first started working with Dr. Hammer and his team in late 2014. As the website progressed I was very moved by Dr. Hammer’s very personal connection to this research. As a dad, I wanted to provide whatever expertise I could to help connect the patients with researchers. My hope and prayer is that one day no child will ever suffer the devastating effects of SCN8A because of the efforts of this dedicated team of professionals.
This page was last modified on:
2/16/2017 9:02:57 AM