A mutation in the same gene is found in 10 percent of patients with two neurodegenerative diseases — frontotemperal dementia (FTD) and amyolateral sclerosis (ALS), also known as Lou Gehrig’s disease. Determining how this mutated gene contributes to ALS will be a focus of research by Justin Ichida, PhD, assistant professor of Stem Cell Biology and Regenerative Medicine, who has received a Muscular Dystrophy Association (MDA) research grant totaling $300,000 over three years.

Researcher Justin Ichida

Researcher Justin Ichida

Ichida’s lab will use “cellular reprogramming” to transform the blood cells of ALS patients with the mutation into motor nerve cells in a Petri dish. Because the mutated gene contains faulty instructions for producing a protein called C9ORF72, these cells are expected to degenerate in the protein’s absence. Ichida hopes to rescue the cells by exposing them to a normal level of the protein, and to reveal the mechanism that allows the protein to protect motor nerve cells.

“This work will establish C9ORF72 protein as a key therapeutic target for ALS patients,” Ichida said. “I’m grateful to the Muscular Dystrophy Association for its commitment to helping patients with a wide range of neuromuscular diseases, including ALS.”

The MDA awarded a total of $10 million in new research grants to scientists conducting leading-edge discovery for muscular dystrophy, ALS and related muscle-debilitating diseases. In all 350 grant requests were received, the most in the MDA’s 65-year history of funding basic, translational and clinical research. Grants were awarded to 36 researchers, half of them new to the MDA.

— Claire Orphan and Cristy Lytal