This Colloquium Lecture provides an overview of the progress made in molecular medicine applying genetics and genomics to the understanding, diagnosis, and treatment of human diseases. Specifically, the methods for identifying genes involved in human diseases are described. Examples from 10 genes and diseases will be provided, drawing on the author's research. Topics include examples from simple Mendelian diseases, such as cystic fibrosis, inherited cancers, oncogenes activated by chromosomal translocations, host genes involved in infectious disease, genes identified via genomewide association studies, pathogens causing cancer, and gene families contributing to multiple diseases. For each example, historical details will be provided as background for readers to understand the context and process of the discoveries, technologies explained, and current understanding and treatment implications detailed.

Michael Dean, Researcher in Cancer Genetics, Frederick, MD
Dr. Michael Dean obtained his Ph.D. from the biochemistry department at the Boston University School of Medicine. He performed his postdoctoral studies on the MET oncogene and the cystic fibrosis gene at the National Cancer Institute, where he is currently the chief of the Laboratory of Translational Genomics. Dr. Dean has published over 350 research articles in peer-reviewed journals including nature, Science, Cell, and the New England Journal of Medicine. In addition, he has authored numerous review articles and chapters in journals and books including those for the public, such as Scientific American, Nature Reviews, and Discovery Medicine. He is a member of the American Society of Human Genetics, Centre Etude du Polymorphisme Humaine (CEPH), and the Human Genome Organization (HUGO), and is an adjunct faculty member at Hood College. Dr. Dean is a recipient of the Young Investigator Award from the American Association for Cancer Research and the National Institute of Health Director's Award. He holds over 12 patents for the discovery of human disease genes. Dr. Dean's current research interests include the genetic analysis of complex disease, genetic variation in human tumors, ABC transporters, age-related macular degeneration (AMD), and cancer stem cells. He is also actively involved in pediatric cancer research efforts in Latin America, including studies of childhood leukemia, and retinoblastoma, cervical cancer, and health disparities among indigenous Mayan people of Guatemala.

Table of Contents
Introduction
Cystic Fibrosis: From Family Studies to Gene Mapping, Cloning, and Function to Therapy
Cancer Genetics and Developmental Biology
Chromosome Alterations and Cancer (MYC)
Discovery of an AIDS Resistance Gene and Development of a Targeted Therapy (CCR5)
Cancer in a Petri Dish: Discovery of an Oncogene (MET)
Studying Populations of Cancer Patients
From Cancer Virus to Cancer Vaccine: HPV and Cervical Cancer
Sequencing the Tumor Genome
ABC Genes: A Gene Family Causing Multiple Diseases
An Eye on Macular Degeneration and Gene Therapy
Conclusion
References
Author Biography