Professor Kay Davies remarked "The generation of animal models is a very important step in the development of therapy of SMA. These models will also be important for the further understanding of the role of SMN in motor neuron survival." Professor Davies' group is collaborating with two of the groups who have produced these animal models, her group now are producing further animal models of the disease.

	Researchers Announce Breakthrough Discovery January 31, 2000 From Families of SMA in the USA

For the first time ever, researchers collaborating from The Ohio State University (OSU), The University of Wuerzburg, Germany, and the Northeast Wales Institute replicated the disease in mice and demonstrated that SMA could be corrected by large amounts of the SMN2 protein. With this advancement, they demonstrated that motor neuron cell death occurs only in later stages of the disease. Their findings support the conclusion that large amounts of the protein SMN2, could act to prevent the damage caused by SMA. It may also be that large amounts of SMN2 could reverse the impact of the disease. SMN2 protein is found in SMA patients but not in sufficient quantities. This research was funded in large part by Families of SMA. Based in the Chicago area, the group is the largest international organization dedicated solely to eradicating SMA.

"These findings demonstrate that someday we may be able to prevent this devastating disease," says Arthur Burghes,Ph.D., associate professor, Departments of Neurology, Medical Biochemistry and Molecular Genetics at OSU and the lead investigator in this effort. His research findings were released today in the journal, Human Molecular Genetics.

SMA is an often fatal disease that affects the motor neurons. The disease destroys these nerve cells which control voluntary muscle movement, affecting crawling, walking, head and neck control, and even swallowing. It is an inherited condition in which both parents carry one defective gene but exhibit no symptoms; their children have a one in four chance of inheriting SMA. These children are either missing the SMN1 gene or it is damaged.

The next step is to identify a potential therapy. In the second of today's important announcements, Families of SMA said it has committed to raising more than $2.5 million to support this critical research. Families of SMA has signed a letter indicating their intent to collaborate with Aurora Biosciences of San Diego, California, in leading the industry initiative to find a safe and effective treatment. Aurora Biosciences possesses the technology enabling it to develop ultra high throughput-compatible assays specific to SMA, which can then be used to rapidly screen hundreds of thousands of potential compounds for their ability to activate production of SMN2.

"We look forward to the prospect of working with Families of SMA in an effort to identify compounds that activate the SMN2 gene so as to produce an adequate amount of the SMN protein required for normal development," said Brian Pollok, Ph.D., Director of Molecular Pharmacology at Aurora.

"I know I speak for thousands of individuals and families across the globe, when I say we are very proud to have supported this important investigation," said Audrey Lewis, founder and executive director of Families of SMA. "We know firsthand the devastating effect this disease can have on the life of a loved one, and we are committed to saving the lives of our loved ones."

Families of SMA is a 100 percent volunteer, not-for-profit organization with 17 chapters worldwide. The group promotes and supports research; helps families cope with SMA through educational programs and assistance; and educates the public and professional community about SMA.