Steve Potter's head shot.Principal Investigator: Steve Potter, PhD
Key Personnel: Keri Drake, MD, Kenneth Kaufman, PhD, James Geller, MDNikolai Timchenko, PhD

The human genome can now be sequenced quite rapidly and affordably. As this technology is applied to more patients, we continue to make progress in understanding the genetic basis of disease. We have identified a group of patients with kidney disease at birth who also developed a second rare disorder— hepatoblastoma, a type of liver cancer. It is very unlikely that these two very rare diseases would be found in the same individual by chance, suggesting that there is a shared genetic cause. This conclusion is supported by several case reports of hepatoblastoma in infants and young children with kidney disease and a recent study showing a significant association between hepatoblastoma and kidney/bladder birth defects.

In collaboration with surrounding institutions, we have identified 11 patients affected by both diseases – 4 of which are remarkably similar, with hepatoblastoma and congenital kidney disease secondary to Eagle-Barrett syndrome. We will use next generation sequencing technology to identify genetic changes in these patients. We will analyze the genetic sequences of patients and their family members as well as tumor tissue taken from biopsies or resections. Since up to 40% of patients present with advanced disease at the time of diagnosis, earlier detection and prognosis predictions based on a genetic test would greatly impact their clinical management. A better understanding of the disease pathways involved in hepatoblastoma and kidney disease may lead to the development of new treatment options and animal models to evaluate therapies, which may eventually lead to improved outcomes for patients affected by these diseases.