MDA has awarded a research grant totaling $387,228 over three years to Lisa Baumbach, associate professor in the departments of neurology, pediatrics and biochemistry at the Miller School of Medicine at the University of Miami. The funds will help Baumbach continue to search for disease-causing genes responsible for infantile (either X-linked or type 1) spinal muscular atrophy (SMA).
X-linked SMA is one of a group of disorders with a wide spectrum of overlapping characteristics that involve the muscle-controlling lower motor neurons. As a group, these diseases are known as infantile lower motor neuron diseases (ILMD). They manifest just prior to birth or in the newborn period, and generally are lethal.
The only identified causal gene for X-linked SMA is UBE-1, but it's suspected there may be others that have yet to be identified in the ILMD group.
Baumbach's new research focuses on finding additional disease genes and biological pathways responsible for causing X-linked SMA and the ILMD group of disorders, and on identifying potential genetic modifiers of the causal genes.
Favorable results could have implications for improving early disease detection and paving the way toward potential therapies.
"We are indebted to MDA staff, MDA supporters and the Board of Directors for their ongoing support," Baumbach said.
Funding for this MDA grant began August 1, 2011.