Together with my long-time colleague Ken Kinzler, I co-direct the Ludwig Center at the Kidney Kimmel Comprehensive Cancer Center at Johns Hopkins. Last century, I attended college at the University of Pennsylvania, majoring in mathematics, and obtained my medical degree from the Johns Hopkins University School of Medicine. The first patients I cared for during my residency in pediatrics at Johns Hopkins were children with cancer. Their and their parents’ plight made a life-changing impression on me and I became obsessed with finding out the root causes of these diseases. It was clear even then that real advances for patients would only come through some concrete understanding of the mysterious processes at work.

In the 1970s, a genetic explanation was only one of many that had been posited to be responsible for cancer. But sophisticated techniques in molecular genetics had begun to emerge, encouraging me to use and modify these to study human neoplastic tissues. The first 20 years of the research that my laboratory performed was devoted to providing hard evidence that cancers are, in essence, special types of genetic diseases. Once this evidence became ironclad, we gradually turned our attention to using this knowledge to develop new ways to tackle the diseases. The approach that I am most passionate about now is secondary prevention – identifying tumors at stages prior to their widespread metastasis. My enthusiasm for this approach probably can be traced back to my days as a pediatrician; the vast majority of advances in pediatrics have come from prevention rather than from treating advanced disease.

The members of our laboratory have developed a variety of powerful technologies to detect the genetic alterations that are responsible for cancers. Most of these are based on variations of digital PCR, wherein individual template DNA molecules are queried, in parallel fashion, thereby enabling the identification of a few mutant templates among thousands of normal templates. We are applying these technologies to plasma (liquid biopsies), as well as other sources of clinical material, such as pancreatic cysts and Pap smears. We are working with a small group of clinical colleagues at selected institutions to optimize these tests for various, urgently needed diagnostic applications. We believe that the only way to dramatically reduce suffering and deaths from cancer is through a combination of earlier detection and improved therapies for early stage disease.