Gideon Dreyfuss, PhD, the Isaac Norris Professor of Biochemistry and Biophysics at the Perelman School of Medicine, and Investigator, Howard Hughes Medical Institute (HHMI), and Sungchan Cho, PhD, a postdoctoral researcher in the Dreyfuss lab, have made a surprising discovery regarding the molecular basis underlying spinal muscular atrophy (SMA), an often fatal neurodegenerative disease and the most common genetic cause of childhood mortality.

The findings suggest that there may be a way to promote survival of neurons by helping a beneficial protein linger a little longer inside nerve cells. Patients with SMA gradually lose the motor neurons in the spine that control most of their muscles. Researchers have known since the 1990s that the disease is nearly always linked to the absence or disruption of a gene known as SMN1 (Survival of Motor Neuron 1). A nearby gene, SMN2, is virtually identical to SMN1, and in principle could produce enough SMN protein to keep neurons healthy – yet somehow fails to do so. The findings appear in the March issue of Genes & Development.

For more, read the HHMI summary at

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.