MDA has awarded a research grant totaling $362,466 over three years to Alysson Muotri, assistant professor at the University of California, San Diego in La Jolla. The new funds will help support Muotri’s generation of a new research model of ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s disease).

Muotri and co-principal investigator Mayana Zatz, Ph.D., professor of genetics and director of the Human Genome Research Center in São Paulo, Brazil, plan to generate a human cellular model of ALS using cells taken from individuals with a particular form of the disease called ALS8.

ALS8 was first mapped in a Brazilian family, and is an autosomal dominant form of the disease, meaning an individual only has to receive one defective copy of the gene, from either parent, to get the disease. An individual with ALS8 has a 50 percent chance of transmitting the condition to each of their offspring. 

Muotri noted that a critical need exists for new human cellular ALS models in which to study ALS, and suggested that recent advances in stem cell biology, including the availability of induced pluripotent stem cells (adult cells that are reprogrammed back to an immature stem-cell-like state) could help unravel the disease mechanisms underpinning ALS. These advances allow the DNA of people with ALS to be captured in an induced pluripotent stem cell line, from which cells can then be matured, isolated and evaluated for specific ALS-causing gene defects.

The new model will be made available to other research groups, and is expected to help determine biological indicators that can help scientists predict the disease course in individuals. It’s hoped the new model also will help make diagnosis easier with early-diagnostic tools and inspire new therapeutic strategies.

"The support of the MDA is crucial to moving the idea of modeling ALS disease using human motor neurons to real outcomes that can benefit patients," Muotri said.

Funding for this MDA grant began February 1, 2011.