Oxalosis & Hyperoxaluria Foundation

Stepping stones to a cure.

Mayo Clinic Primary Hyperoxaluria Center’s Genetics Research Laboratory

Mayo Clinic Primary Hyperoxaluria Center’s Genetics Research Laboratory

Located in the Stabile building on the Mayo campus in Rochester, MN is the Mayo Clinic Primary Hyperoxaluria Center’s Genetics Research lab. Our lab is part of the Rare Kidney Stone Consortium (RKSC), whose goal is to improve care and outcomes for patients with rare stone diseases.

Our research focuses mainly on the three types of Primary Hyperoxaluria (PH) and two types of Dent Disease, although we are extending our interest into other rare stone diseases such as Cystinuria and APRT, and even to identifying genetic factors in recurrent stone formers. The lab consists of Dr. Peter Harris (Lab Director) and Andrea Cogal (Research Technologist), with clinical input from Drs. Dawn Milliner, John Lieske and David Sas.

We oversee the RKSC biobank which currently holds numerous biological samples, including urine, DNA, kidney tissue/stones, and liver tissue from patients all over the world. The samples are stored for use in research relating to stone disease and shared with collaborative investigators from other institutions to better understand these disorders.

Once the center receives DNA samples from patients suspected to have a rare stone disease, gene sequencing is performed to look for mutations specifically in the disease genes. The purpose of this research testing is two-fold. First, to make a specific diagnosis if disease-causing mutations are detected. In those patients confirmed to have a genetic cause for their stone disease (such as PH), we then use available clinical information to perform careful studies to understand the relationships of patients’ symptoms to the genetics of these disorders.

Currently we are beginning a next generation sequencing (NGS) project that will screen for mutations in a panel of 90 genes known or suspected to cause kidney stones. This approach will provide more comprehensive diagnostic testing and may identify new stone disease genes. We have a large population of patients who appear to have a rare stone disease but in whom no mutations have been detected using the conventional analysis. With the development of the expanded gene panel we hope to streamline our current screening process and expand our scope to capture not only genetic changes that cause 2 diseases (PH and Dent disease), but also variants in other genes that may cause kidney stone disease or possibly influence the symptoms and problems experienced by patients.

This summer we had the opportunity to work with Elizabeth Abrash who is participating in Mayo’s nuSURF (Nephrology and Urology Summer Undergraduate Research Fellowship) program. Elizabeth joined us from Kenyon College in Gambier, OH where she is studying molecular biology. Her summer project will involve generating a mutation database for both Dent and PH diseases, gaining more experience at the bench with PCR-related techniques, analyzing and categorizing mutations detected during screening utilizing in silico tools, and in the initial set-up of the NGS 90-gene panel project.

The mission of the Mayo PH Center’s Genetics Research lab is to gather as much genetic information as we can about these rare diseases to improve diagnostics and assist in developing new treatment strategies for these diseases.

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