02:53am Thursday 12 December 2019

Penn Researchers Clarify Cause of Spinal Muscular Atrophy

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 http://www.hhmi.org/news/dreyfuss20100301.html


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 University of Pennsylvania School of Medicine (founded in 1765 as the nation’s first medical school) and the University of Pennsylvania Health System, which together form a $3.6 billion enterprise. 

Penn’s School of Medicine is currently ranked #3 in U.S. News & World Report’s survey of research-oriented medical schools, and is consistently among the nation’s top recipients of funding from the National Institutes of Health, with $367.2 million awarded in the 2008 fiscal year. 

Penn Medicine’s patient care facilities include:

Additional patient care facilities and services include Penn Medicine at Rittenhouse, a Philadelphia campus offering inpatient rehabilitation and outpatient care in many specialties; as well as a primary care provider network; a faculty practice plan; home care and hospice services; and several multispecialty outpatient facilities across the Philadelphia region.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2009, Penn Medicine provided $733.5 million to benefit our community.

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