Washington, D.C. – March 29, 2007 – In Senate Subcommittee on Labor-HHS-Education Appropriations hearings this week, National Institute of Neurological Disorders and Stroke Director, Story C. Landis Ph.D., testified on the remarkable scientific advances that have been made in spinal muscular atrophy research over the past decade. This is an excerpt from her remarks:
A decade ago, spinal muscular atrophy (SMA) was one of hundreds of poorly understood inherited disorders that affect the nervous system, and the outlook for developing treatments was bleak. The discovery of the gene defect that causes SMA revealed a rational strategy for developing drug therapy. In just a few years, the NINDS SMA Project developed a detailed drug development plan and tested hundreds of new compounds in laboratory tests. Most recently, some of these potential drugs increased the amount of the critical missing protein to normal levels in cultured cells from patients who have SMA. The SMA Project is testing the effectiveness of these compounds in animals with SMA and assessing their safety to bring these potential drugs to clinical trials, offering significant promise for helping people who have SMA.
Research on SMA illustrates the path from gene to understanding to treatment. Researchers have now characterized well over 200 mutations that cause neurological disorders. For inherited ataxias, Batten disease, Down syndrome, Huntington’s disease, muscular dystrophy, Rett Syndrome, neurofibromatosis, and many other previously baffling disorders, researchers have genetically engineered animals that mimic the human disorder and then replaced genes, turned harmful genes off, turned up compensatory genes, or counteracted gene defects with drugs that target the affected cellular functions. In the future, application of these strategies to patients could preempt or even reverse the damage caused by gene defects. NINDS is aggressively pursuing opportunities to translate science advances such as these to treatments.