MDA has awarded a research grant totaling $416,250 over three years to Joseph Sarsero, head of the Friedreich Ataxia Laboratory Research Program at the Murdoch Childrens Research Institute in Parkville, Victoria, Australia. The new funds will help support Sarsero’s development of a new mouse model of Friedreich’s ataxia (FA).

Prior to evaluating new therapies in people with FA, it is important that they be tested in appropriate biological models of the disease, Sarsero noted.

"Animal models that are generated by the 'knocking out' of specific genes often manifest the main symptoms of the corresponding human disorder; however, such models rarely recapitulate the precise molecular cause that underlies the human disease."

Accurate "humanized" mouse models of disease are designed to contain an entire human gene of interest and harbor the specific disease-causing mutations found in people with the disease. Such mice should not only manifest the main symptoms of a disorder, but also provide the correct underlying molecular cause of the disease.

Utilizing information and resources generated as part of the Human Genome Project, coupled with their expertise in handling the FA gene and their preliminary mouse models of the disease, Sarsero and colleagues plan to generate an improved humanized FA mouse model that will contain the entire human FA gene.

Funding for this MDA grant began February 1, 2011.

"The mouse model will more accurately reflect the underlying molecular cause of FA and exhibit the key molecular, biochemical, epigenetic and behavioral traits of the disorder," Sarsero said.

This new research tool is expected to enable scientists to better understand the molecular underpinnings of FA as well as provide a better subject in which to test potential FA therapeutics.

"MDA support has been pivotal in allowing us to pursue major projects aimed at identifying new pharmacological therapies for Friedreich's ataxia and the generation of accurate mouse models of the disorder," Sarsero said.