Penn researcher wins Scientific Innovations Award from Chicago-based Brain Research Foundation

James Eberwine, PhD, the Elmer Holmes Bobst Professor of Systems Pharmacology and Translational Therapeutics at the Perelman School of Medicine at the University of Pennsylvania, has received the 2017 Scientific Innovations Award from the Chicago-based Brain Research Foundation, which supports research for preventing and treating neurological diseases.

Eberwine is one of three recipients nationally of this two-year, $150,000 award, which recognizes established investigators.

The goal of the proposal is to find new ways of treating mitochondrial diseases— inherited, chronic illnesses occurring anywhere in the body, with the brain being the most common site. They affect one in 5,000 people and are caused by gene-based malfunctions in the energy storehouses called mitochondria, which are present in every cell in the body. Neurological symptoms of mitochondrial diseases include intellectual disability, seizures (childhood epilepsy), ataxia (loss of control of bodily movements), and garbled speech.

While researchers have carried out mammalian genome engineering for decades, progress in mitochondria engineering has been limited because little is known about individual mitochondrial differences. In addition, it hasn't been easy to insert or delete genes into mitochondria to evaluate potential causes and consequences of these differences. Even if modification were possible, there are hundreds to thousands of mitochondria in a cell, making it hard to know how to modify, all mitochondria in the same way.

Eberwine's proposal details new approaches for overcoming these problems. His goal is to supply technical and theoretical frameworks for creating therapeutic mitochondria and increasing overall understanding of basic mitochondrial function. Specifically, he hopes to be able to detect, quantify, and investigate specific mutations in single mitochondrions from mouse and human neurons and astrocytes (cells that protect brain tissue, eliminate other dead cells, and transport nutrients and oxygen). If successful, Eberwine and his team expect to provide new insights into the complex role mitochondria play in modulating neuron function.