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2004 Judson Daland Prize

Ali Gharavi of Columbia University for his work on "genetic studies of IgA nephropathy."

Dr. Ali Gharavi has demonstrated that a major gene on chromosome 6 affects the risk of IgA nephropathy, changing prevailing concepts about the pathogenesis of this disorder, and showing that disease occurrence and familial aggregation have a significant genetic basis.

The biological basis for the development of kidney failure is poorly understood, limiting the development of effective therapeutic or preventive measures. Dr. Gharavi's studies focus on IgA nephropathy, one of the most common causes of kidney failure worldwide. Familial, ethnic and geographic aggregation of IgA nephropathy has usually been considered to have environmental causes. Dr. Gharavi hypothesized that this clustering could be explained by shared genetic factors. He identified and enrolled thirty families in the United States and Italy that had two or more individuals affected, screened other family members and identified individuals with early or mild manifestations, not usually leading to referral for medical evaluation.

After performing a genome-wide search, he found that in the majority of families the disease is attributable to a single locus on chomosome 6q22-23. He repeated the findings in a new cohort of patients with IgA nephropathy. urther genealogic work and genetic analysis have led to the discovery of shared chromosomal segments among distantly related patients with no affected immediate family members. His findings provide strong evidence for a gene with large affect of IgA nephropathy.

By validating that IgA nephropathy can have a genetic cause, he has made clinicians aware that family history should be routinely investigated, and family members with urinary abnormalities should be referred for nephrologic evaluation for early therapy, before the development of renal failure. Family members with a history of urinary abnormalities are now advised against donating kidneys to affected patients. Dr. Gharavi's work on the genetic basis of IgA nephropathy changes our understanding of the pathogenesis of glomerulonephritis and renal failure.