415.612.92 INTRODUCTION TO HUMAN GENETICS II

415.610 addresses the chromosomal basis of heredity, chromosomes and genes, tools of human molecular genetics, single gene inheritance, variation, polymorphism and mutation, genes in populations and genes in families. 415.611 presents the role of genetic counseling in health care and emphasizes the essential components of prenatal, pediatric, and adult genetics services. Indications for referral and genetics education and counseling components are illustrated using care examples. Clinical skills and tools are taught including family, medical and development history taking and pedigree construction. Additional case management skills such as the choice of laboratory and test interpretation, and issues in billing and reimbursment of genetic counseling services are addressed. 415.612 -613 expand on the previous two courses to examine the Hemoglobinapathics and Thalassemias as models of molecular pathology, the molecular/biochemical basis of genetic disease, genetics of cancer, gene mapping

Upon completion of this course, students will (1) understand basic structure and function of chromosomes and genes; (2) recognize inheritance patterns in pedigrees and assess risks; (3) understand when and how screening and diagnostic tests are performed and how to interpret results of such tests; (4) know basic mechanisms of mutation and how mutations can lead to disease; (5) understand how the inheritance pattern of a disease is determined by the molecular mechanisms by which mutations alter gene function and cause the disease; and (6) know the features of common genetic diseases seen in genetic counseling practice, including natural history and management.