Since joining Northwestern Medicine in 2014, she described a new mutation linked to severe childhood epilepsy in a paper published in the Oct. 2014 issue of Annals of Neurology. Her team found an anomaly in a potassium channel gene that causes neurons to misfire, which can lead to seizures and disrupted development.
She completed her graduate degree in neuroscience and postdoctoral fellowship in genetics at the University of Michigan. Before joining Feinberg, Kearney worked at Vanderbilt University.
What are your research interests?
My research program is focused on studying the genetic basis of epilepsy and epileptic encephalopathies. Isolation of epilepsy genes will help us understand the underlying pathophysiology and suggest novel therapeutic strategies for improved treatment of patients. We use classical genetic approaches to identify modifier genes in mouse models and then investigate whether the same genes contribute to epilepsy risk in human patients. One of our current projects is focused on identifying genetic modifiers of Dravet syndrome, a severe epileptic encephalopathy in which patients have intractable epilepsy accompanied by intellectual disability and autistic features. We developed a mouse model of Dravet syndrome that exhibits variable phenotype severity depending on the genetic background. Identifying genetic modifiers and understanding how they contribute to disease development and progression may suggest novel, genome-guided therapeutic strategies.
What is the ultimate goal of your research?
The ultimate goal of our research is translate our genetic knowledge toward precision medicine in epilepsy and improve patient outcomes.
What types of collaborations are you engaged in across campus (and beyond)?
We have a long-standing and productive collaboration with Al George, MD, Magerstadt Professor and chair of Pharmacology. His laboratory is expert in defining the functional consequences of ion channel mutations using electrophysiological recordings. Bringing together genetic mutations that we identify in patients and functional consequences advances our understanding of the underlying disease mechanisms. In addition to characterizing human ion channel mutations, Dr. George’s group also performs recordings of neurons from our mouse models, enabling comparison of neurons protective and susceptible backgrounds. Our laboratories are located directly adjacent to one another in an open-design lab, allowing constant exchange of ideas between the groups and enriching the experience of my trainees.
We have also established recent collaborations with laboratories in the Department of Physiology, including those of Anis Contractor, PhD and Marco Martina, MD, PhD. Beyond Northwestern, we have collaborations with research groups at Emory University, University of Michigan, University of California-Davis and clinical collaborators from North America and Europe.
How is your research funded?
Our research has been funded mainly by the National Institutes of Health, with additional support from epilepsy-focused foundations and pharmaceutical companies.
Who makes up your research team and what role does each individual play in your research?
Our research team is currently made up of two postdoctoral fellows, a graduate student and a technician. Nicole Hawkins, PhD, is studying transcriptome dynamics and novel therapies in a mouse model of Dravet syndrome. Jeffrey Calhoun, PhD, is studying genetic modifiers of focal epilepsy in a mouse model with an Scn2a mutation. Erin Baker, a second year Driskill Graduate Program in Life Sciences student, is studying novel pharmacological treatments in mouse models with Scn2a and Scn8a mutations. Our technician, Nicole Zachwieja, MS, is performing fine mapping of Dravet syndrome genetic modifiers.
Who inspires you?
I am inspired by the families of patients with epileptic encephalopathies. These devastating neurodevelopmental disorders are debilitating, life-long conditions that severely impact quality of life for patients and their families. Despite the endless demands of caring for children with a chronic, complex medical condition, parents work tirelessly to raise awareness and research funds. Their staunch advocacy on behalf of their children is inspiring and motivates our work.