Along with Bert Vogelstein, Dr. Kinzler has been called a member of the “dynamic duo,” for his tireless devotion to defining the genetic alterations responsible for human tumorigenesis. His early work concerning colorectal cancer (CRC) led to the discovery that the presence of intestinal polyps can be attributed to mutations within the adenomatous polyposis coli (APC) gene. Since this observation, Dr. Kinzler continued to investigate the role of APC in CRC, eventually elucidating the role of most of the proteins within the APC signaling cascade. His APC studies marked the beginning of a career that would push the technological boundaries of mutation detection in human cancer. To date, Dr. Kinzler and his colleagues have played a pivotal role in defining more than 20 major cancer genes including APC, β-catenin, MSH2, MLH1, MSH6, FBXW7, PIK3CA, PALB2, ARID1A, ARID2, DAXX, ATRX, CIC, FUBP1, GNAS, RNF43, IDH1 and IDH2 as well as the genetic bases for several forms of inherited predispositions to cancers.
Dr. Kinzler is also recognized for developing novel genetic methods for analyzing gene expression and mutations. Dr. Kinzler developed SAGE (serial analysis of gene expression), a bioinformatics platform that allowed quantitative analysis of global gene expression profiles in an unbiased manner. Using this approach, he provided the first global picture of gene expression in human cancer. It was through his use of SAGE that Dr. Kinzler coined the term “transcriptome.” This term, which refers to all of the present RNA molecules within a given sample or population, is now commonly used to describe observed global gene expression patterns. Dr. Kinzler, along with Dr. Vogelstein, was also the first to recognize the power of digital analysis of DNA for mutations detection. Together, using digital approaches, they pioneered new clinical applications for rare mutation detection in samples from cancer patients.
Career Highlights
2019 Elected Member, American Academy of Arts and Sciences
2017 AACR Team Science Award (Liquid Biopsy Initiative Team)
2016 Elected Member, National Academy of Sciences
2014 AACR Team Science Award (Brain Cancer Research)
2013 AACR Team Science Award (Pancreatic Cancer Research)
2012 MERIT Award, National Cancer Institute
2009 Inaugural National Brain Tumor Society Founders Award
2008-2011 Board of Directors, AACR
2006 NCI Director’s Service Award
2002 MERIT Award, National Cancer Institute
1993 Young Alumnus Award, Philadelphia College of Pharmacy and Science
1988 David Israel Macht Award for Excellence in Research, Johns Hopkins University School of Medicine
1988 Sandoz Award, Johns Hopkins University School of Medicine
1988 PhD, Johns Hopkins University