- Posted Tuesday November 6, 2018
Gabrielle Mills and Lori Llaci present on DMN1 mutations and epileptic encephalopathy in rare disease patients.
Helios Scholars at TGen alumni are lighting up Neuroscience 2018.
Gabrielle Mills (Class of 2018) presented her dynamic poster on development of a zebrafish model to study childhood epileptic encephalopathy caused by DNM1 mutations at the Society for Neuroscience annual meeting November 4-7 in San Diego. Her project is based on a collection of five patients from TGen’s Center for Rare Childhood Disorders.
“A lot of our patients don’t have control of their symptoms and we want to find the best antiepileptic drug for them without having to put them through a lot of tests,” explained Gabrielle, a student at Arizona State University.
Zebrafish have 85 percent similarity in their DMN1 genes to humans, and their brains are fully developed in 72 hours so scientists can see how the epilepsy occurs.
Working with fibroblasts from the same set of rare disease patients, Lori Llaci (Class of 2016) presented a nanosymposium on mitochondrial dysfunction and epileptic encephalopathy. Last year, Lori presented a poster on the research at the Neuroscience meeting, and this year she was invited to speak after a novel finding that linked the DMN1 mutation with mitochondrial dysfunction.
Both Gabrielle and Lori are working this semester with Dr. Sampath Rangasamy, TGen Research Assistant Professor on the DMN1 project.
Other Helios Scholars at TGen alumni presenting at the conference include Chris Balak (Class of 2013), who presented a poster on RNA Helicase DDX6 mutations that cause intellectual disability in rare disease patients, and Amanda Courtright Lim (Class of 2018) who presented her poster on longitudinal exRNA profiles in patients with aneurysmal subarachnoid hemorrhage.
Neuroscience is expected to draw more than 35,000 attendees from around the globe.