Katalin Susztak, a professor of internal medicine, nephrology, and genetics at the Perelman School of Medicine never imagined that she would one day pioneer groundbreaking advances in the treatment of kidney disease. However, an unexpected turn during her postgraduate education set her on a path of exploration to unravel the intricacies of the kidney and revolutionize the way kidney disease is identified, prevented and managed.
It was during medical school in Hungary, where she was born and raised, that Susztak discovered her fascination with research into understanding how organs and the human body work.
His interest in kidney disease was sparked during his intern year when he saw a patient whose disease was caused by defects in the exact same carrier protein he had studied in graduate school.
Katalin Susztak, professor of internal medicine, nephrology and genetics at the Perelman School of Medicine. (Image: Penn Medicine News)
According to Susztak, few new approaches have worked to treat or cure kidney disease over the two decades between 2000 and 2019, when he embarked on his career in the field, and understanding how the kidney helps the body get rid of of the waste remains incomplete. As he began developing his own research lab as principal investigator, Susztak and his team observed how more than a million people worldwide die of kidney failure each year, despite existing therapies including drugs, dialysis, and transplants. We have to change it, she said.
This was the early 2000s, when scientists were just starting to study gene expression changes at the whole genome level, not just one gene at a time, which was immediately of interest to Susztak. He set out to analyze biopsy samples collected from patients with kidney disease using these genomics tools to take an open or unbiased look at all the genes expressed in the samples. The goal was to identify new genes and molecular pathways for the development of diabetic kidney disease, the most common cause of kidney failure in patients.
When Susztak moved to Penn Medicine, her team doubled down to address kidney disease using a variety of approaches. First, they started focusing on characterizing the genetic basis. Kidney function has a strong hereditary component, which means it tends to run in families, so by collecting genetic and kidney function data for more than 1.5 million people, his team was able to generate a genetic map of where the probable causal genes reside in the genome. Second, Susztaks’ team expanded the use of tools to analyze kidney tissue not only how gene expression changes (genomics), but also how genes are organized and regulated (epigenetics), as well as studying the proteins and renal metabolites on a global scale.
A critical limitation of previous work has been that the kidney is a very complex organ made up of more than 30 different cell types. Nearly five years ago, Susztak’s lab made a major breakthrough in kidney disease when a single-cell tool, the first of its kind at Penn Medicine, became available for their use to pinpoint which kidney cells were responsible for which types of disease at the cellular and molecular level. It was transformative and accelerated our research, and we were able to link different subtypes of kidney disease to different cell types in the kidney, says Susztak.
Now, by combining human genetic information and a variety of single-cell tools, his team has identified hundreds of genes that likely contribute to kidney dysfunction. From this long list, Susztaks’ lab has already characterized the role of nearly half a dozen specific genes to better understand why people develop kidney disease and how the disease progresses. In addition, Susztak has made his complete datasets publicly available, creating and maintaining a website where other scientists can search and analyze his findings and discover new genes.
This story is by Lauren Malecki. Read more at Penn Medicine News.
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