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FA — Giovanni Coppola, M.D.

 
Giovanni Coppola (FA)
Because there are numerous compounds with therapeutic potential for Friedreich's ataxia at the preclinical stage of development, there's an increased need for better and more sensitive markers of disease severity and progression. In addition, Coppola says, "Sharing and collaboration are essential."
Friedreich’s Ataxia (FA)

MDA has awarded a research grant totaling $398,541 to Giovanni Coppola, assistant professor and co-director at the University of California, Los Angeles, Informatics Center for Neurogenetics and Neurogenomics. The funds will help support Coppola's research into biological indicators, called "biomarkers," in Friedreich's ataxia (FA).

In a recent pilot study, Coppola and colleagues used microarray technology (a technique that allows researchers to check the gene "expression," or activity, level of thousands of genes at the same time) to identify a set of 77 genes that exhibited changes that correlated with disease status in 10 FA-affected individuals, 10 healthy volunteers and 10 FA "carriers," (people who carry only one defective copy of the gene responsible for FA).

In his new work, Coppola plans to validate the 77 previously identified genes by studying a 10-times larger group of subjects over a period of three years.

Coppola hopes to identify a "signature" of disease that can be used in clinical trials to monitor disease progression and the effects of experimental treatments.

"MDA funding will allow me to test an innovative approach to identifying biomarkers in Friedreich's ataxia, which can potentially be applied to a number of other neurogenetic diseases as well," Coppola said.

In parallel with its biomarker studies, Coppola's team plans to collect genetic information, including gene expression data, from study participants. The researchers will store the data in a large Web-based database, providing the scientific community with the first centralized repository of gene expression data in FA.

Funding for this MDA grant began February 1, 2011.

‹ DMD/BMD — Masahiko Hoshijima, M.D., Ph.D. up FA — Joseph Sarsero, Ph.D. ›

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