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OTTAWA, January 22, 2003 - Scientists at the Ottawa Hospital Research Institute have achieved a gene therapy breakthrough that could lead to the first effective treatment for spinal muscular atrophy -- the leading genetic killer of infants.

Spinal muscular atrophy, or SMA, destroys nerve cells that control muscle movements such as crawling, walking, swallowing and breathing. The disease strikes one in every 6,000 live births. SMA is usually diagnosed in babies under 18 months old, but certain types of the disorder can appear in later life. Babies born with the disease usually die of paralysis and respiratory failure before their second birthday.

SMA is caused by mutations in a gene that produces a crucial protein called survivor motor neuron, or SMN. Without sufficient amounts of this protein, nerve cells that control muscles and breathing degenerate and die.

"Children born with the most severe form of the disease will never be able to sit up. They'll look floppy. They may not show any expression in their face because the cranial nerve that controls smiling might be affected," says Dr. Christine DiDonato, Senior Research Associate at the OHRI.

In a study published in the current issue of Human Gene Therapy, Dr. DiDonato, along with virologist Dr. Robin Parks and molecular biologist Dr. Rashmi Kothary, both scientists at the OHRI and professors at the University of Ottawa, used a disabled adenovirus, a harmless virus, to deliver a healthy copy of the SMN1 gene into human cells.

The team used skin cells taken from patients with spinal muscular atrophy because they are easier to grow than motor neurons and show the same effects of SMA. Healthy human cells contain small cell structures called "gems", areas rich in SMN that look like star bursts. Cells from people with spinal muscular atrophy contain few gems, or none at all. Dr. DiDonato and her colleagues showed that by infecting the cells with an adenovirus carrying the SMN1 gene, they could make more gems appear.

The next stage is to move into animal models of the disease. But the early success is a promising step toward an eventual gene therapy treatment for SMA, Dr. DiDonato says.

The team's research was funded by the Canadian Institutes for Health Research, the Muscular Dystrophy Association and Families of Spinal Muscular Atrophy.

The Ottawa Hospital Research Institute

The OHRI is the research arm of The Ottawa Hospital, and a major part of the University of Ottawa Faculty of Medicine and Faculty of Health Sciences. Its research programs are grouped into: Molecular Medicine, Cancer Therapeutics, Clinical Epidemiology, Diseases of Aging, Hormones, Growth and Development, Neuroscience, and Vision. With over 100 scientists, 225 students and 400 support staff, and $34 million in external funding, the OHRI is one of the fastest growing, and most respected hospital-based research institutes in Canada.

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