Genetic Findings from an NKI Funded Researcher

In 2014, NephCure Kidney International and the ASN Foundation for Kidney Research awarded Dr. Heon Yung Gee with a Young Investigator Grant. Dr. Gee is a physician-scientist at Boston Children’s Hospital who focuses on the genetic causes of nephrotic syndrome. With NephCure and ASN support, he is conducting research on how mutations in KANK2 and ARHGAP4 cause defects in the proteins that cells use to communicate. Lack of communication causes problems with podocytes—the part of the kidney that likely plays a big role in causing nephrotic syndrome.

Recently, Dr. Gee published an update on this research in the Journal of Clinical Investigation. Thanks to Dr. Gee’s research, the Hildebrandt group has added KANK 1, 2, and 4 to the genetic test used to influence the treatment of nephrotic syndrome patients. As of now, this test includes approximately 30 genes, which if mutated, are known to cause nephrotic syndrome. To learn more about genetic tests, stay tuned for an upcoming NKI monthly newsletter.

Dr. Gee’s research has also led to new tests, which can be used to screen for drugs that may provide a treatment for some patients with steroid-resistant nephrotic syndrome.

To learn more about Dr. Gee and other NKI-funded researchers, visit: https://nephcure.org/research/nephcure-funded-research/.

To read Dr. Gee’s article in the Journal of Clinical Investigation, click here: http://www.jci.org/articles/view/79504.