OCT 17, 2013 7:00 AM PDT

Noninvasive Cancer Genomics

Speaker
  • Chief Scientific Officer, Sequenom
    Biography
      Dr. Charles Cantor is a founder, and Chief Scientific Officer at SEQUENOM, Inc., which is a genetics discovery company with tools, information and strategies for determining the medical impact of genes and genetic variations. He is also the founder of SelectX Pharmaceuticals, a drug discovery company, Retrotope, an anti-aging company, and DiThera, a biotherapeutic company. Dr. Cantor is professor emeritus of Biomedical Engineering and of Pharmacology and was the director of the Center for Advanced Biotechnology at Boston University. He is currently adjunct professor of Bioengineering at UC San Diego, adjunct professor of Molecular Biology at the Scripps Institute for Research, and distinguished adjunct professor of Physiology and Biophysics at UC Irvine. Prior to this, Dr. Cantor held positions in Chemistry and then in Genetics and Development at Columbia University and in Molecular Biology at the University of California at Berkeley. Cantor was educated in chemistry at Columbia College (AB) and at the University of California Berkeley (PhD). Dr. Cantor has been granted more than 60 US patents and, with Paul Schimmel, wrote a three-volume textbook on biophysical chemistry. He also co-authored the first textbook on Genomics titled 'The Science and Technology of the Human Genome Project'. In addition, he sits on the advisory boards of numerous national and international biotechnology firms, has published more than 450 peer-reviewed articles, and is a member of the U.S. National Academy of Sciences.

    Abstract

    Whenever there is cell death, apoptotic cell free DNA fragments appear in the circulation of the host. These fragments, typically 145-160 base pairs in size, represent a minute fraction of total DNA in the host circulation. If care is taken to avoid host cell breakage, the apoptotic DNA fragments can be analyzed to provide information about the genome of the cells that produced them. In pregnancy, analysis of apoptotic DNA fragments has allowed the development of very effective noninvasive aneuploidy testing. Indeed it is possible to reconstruct the entire fetal genomic DNA sequence from these fragments. In cancer it is possible to view copy number, sequence, and epigenetic differences between the tumor and the host by analyzing circulating free DNA. While this work is still at early stages it is reasonable to predict that an array of useful noninvasive cancer diagnostic tests should soon result from such studies. It is furthermore likely that a careful search for informative apoptotic DNA fragments that differ in methylation from DNA in the circulation of a normal host might lead to methods for the early detection of other clinical situations that are characterized by inappropriate cell death. Learning Objectives: Understand why stochastic noise limits the kinds of molecular testing possible from dilute sources like plasma Understand why non invasive prenatal testing can be extremely accurate but not perfect because of biological complexities


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