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Genetics of kidney disease

Researchers at KHRI in collaboration with others, both in the U.S. and internationally through the CKDGen Consortium, are utilizing genetic information, including information from the MyCode Community Health Initiative at Geisinger, to discover new genes related to kidney function, kidney damage, and chronic kidney disease by performing collaborative studies involving over 750,000 individuals from over 100 populations worldwide. By combining electronic health record and genomic data, research efforts are targeting specific kidney diseases and the complications associated with diabetes and obesity. A "precision medicine" approach to individualize patient care and the establishment of a Fabry Registry at Geisinger has been undertaken to improve the health and well being of patients with Fabry disease.

Fabry Disease Registry

A Fabry Registry has been established for patients with Fabry disease in collaboration with Sanofi-Genzyme, a Cambridge, Mass.-based biotechnology company.

The Registry serves as a first step in establishing a Fabry Center of Excellence at Geisinger aiming to provide multidisciplinary subspecialty expertise for patients with Fabry disease by integrating the MyCode Genomic Sequencing and Counseling Program, comprehensive patient assessments, enzyme replacement therapy, and encouraging clinical and genetic studies in Fabry disease and other lysosomal storage disorders.

CKDGen Consortium

Geisinger, in collaboration with the CKDGen Consortium are using the MyCode Community Health Initiative data to identify novel genetic loci associated with kidney function, and kidney disease-related traits.

The goal of the international CKDGen Consortium is to discover new genes related to kidney function, kidney damage, and CKD traits including glomerular filtration (eGFR), serum creatinine, and urinary albumin excretion by performing collaborative meta-analyses of genome-wide association study data in over 750,000 individuals from over 100 populations worldwide on an unprecedented scale.

Results are being released starting in 2018 from these analyses are expected to provide new insights into the genetic and biological origins of kidney disease across multiple ethnicities while providing new tools for precision medicine.