Friedreich ataxia (FRDA) is a genetic condition characterized by progressive incoordination, muscle weakness, fatigue, heart disease, and shortened life expectancy. FRDA is caused by a particular type of genetic defect in the FXN gene called a “GAA repeat expansion,” and individuals with FRDA inherit this gene defect from each parent. As treatments for this disease are being developed, it is important to know which populations around the world have FRDA and at what frequency. It is known that FRDA is not equally distributed around the world. It affects people from Europe, North Africa, the Middle East, and South Asia, and it is not seen in people from Sub-Saharan Africa and East Asia. The prevalence of FRDA is widely quoted to be 1 in 40,000 people; however, this is not specific to individual populations and does not consider frequency variations within large populations. To estimate the true prevalence of FRDA our lab has sequenced the FXN gene and found genetic markers that can identify the GAA repeat expansion in large genetic databases. We will search the UK Biobank for individuals who have these genetic markers to more accurately derive FRDA prevalence. We will also investigate if certain versions of the gene have any beneficial effects, we will search the UK Biobank for any health-related differences in people who have these genetic markers and those who do not.
