Newswise — PHILADELPHIA— 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.

Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $5.3 billion enterprise.The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 18 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $373 million awarded in the 2015 fiscal year.The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center -- which are recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report -- Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2015, Penn Medicine provided $253.3 million to benefit our community.

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