Fernando Morales, head of the genetic section at the Health Research Institute of the University of Costa Rica, has received an MDA grant totaling $366,210 over three years. The funding will help support Morales’ research to define the molecular underpinnings of type 1 myotonic dystrophy (MMD1, or DM1) and factors that modify the course of this highly variable, multisystem disease.

The MMD1-causing mutation, an expansion in the DNA of a gene on chromosome 19, changes over time, usually becoming larger during a person's lifetime and when being passed between generations. In general, the larger the DNA expansion, the more profound the effects of it are likely to be. However, the correlation between disease severity and age of onset and size of the mutation isn't perfect.

In this project, Morales and colleagues aim to analyze how the MMD1 mutation changes over time and how the changes relate to the clinical course of the disease. They also plan to identify genetic and other modifiers of the MMD1 mutation.

"Importantly," said Morales, "these modifiers of the MMD1 mutation could also be modifiers of the disease, and if so, they could be used as therapeutic targets to delay disease onset and progression."

Morales said he hopes the project will generate more reliable genetic data that can provide more accurate information about prognosis to families and improve disease management and quality of life.

"Funding by MDA is of great importance to our project," Morales said. "Thanks to it, we can investigate in more detail several biological and clinical aspects related to MMD1 in which there is still controversy."

Funding for this MDA grant began August 1, 2010.