Alport Syndrome

The University of Utah has been working on the genetics of Alport syndrome since 1949. This culminated in the discovery of mutations in the COL4A5 gene with workers from Oulu, Finland in 1990.  Work has continued on genotype-phenotype correlations and, together with Paul Bernstein and collaborators in the Moran Eye Center, on ophthalmologic manifestations of Alport syndrome. We are also co-investigators in ASTOR, the Alport Syndrome Treatment and Outcomes Registry.