Author Description

The second edition of Genetic Diseases of the Kidney explains how the latest technologies in genetics and genomics have had a tremendous impact on the understanding of kidney disease. In the last 5 years, two new generations of genetic and genomic technology have come into wide use that have had a dramatic impact on the understanding of human renal disease. GWAS have led to the identification of more than 1200 robust associations of common genetic variants with common disease – diseases of the kidney have been major beneficiaries of this technology. Common variants contributing to IgA nephropathy and blood pressure have provided new insights into disease pathogenesis. Major new findings also explain the long-recognized but previously unexplained increase in the prevalence of hypertensive end-stage renal disease among people of African ancestry. The last decade has also brought a new era of personal genomics into view and has reduced the cost of DNA sequencing all the genes in the genome to less than $1000. This has dramatically advanced the ability to identify rare mutations that cause or contribute to human disease. The second edition of Genetic Diseases of the Kidney will outline how this work has already made substantial contributions to the understanding of renal cancer, tumors that cause hypertension, and a number of other kidney diseases. New and extensively updated chapters will discuss how these new technologies point toward broader use of genome-level sequencing for diagnosis and therapeutics tailored to underlying mutation. Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes All disease-specific chapters have been updated to explain the use of genetic and genomic technologies in the routine diagnosis of common renal diseases and how new therapeutics are emerging based on genetic and genomic insig