Research Grant Award

Joseph P Sarsero, PhD (B.Sc. Honrs)

Murdoch Children's Research Institute
Regulatory analysis of Friedreich ataxia locus using BAC genomic reports

Friedreich ataxia is an inherited disorder of the nervous system and heart. The genetic defect that causes Friedreich ataxia results in reduced levels of an essential protein termed frataxin in all cells of the body. Understanding the mechanisms that control the expression of the Friedreich ataxia gene would enable the development of therapeutic applications by indicating ways in which to specifically target the increased expression of the Friedreich ataxia gene in persons with Friedreich ataxia. Our aim is to identify and develop new pharmacological approaches for the restoration of Friedreich ataxia gene expression and the therapy of Friedreich ataxia. Using information and resources generated as part of the Human Genome Project we have developed new techniques to study human gene expression in cellular and animal systems. A combination of computer analysis and lab-based experimentation is being undertaken to decipher Friedreich ataxia gene control mechanisms.