MS, Sarah Lawrence College, Human Genetics. BS, Downstate Medical Center. Human Physiology. SLC, 2002-
This course examines the chemistry and metabolism of proteins, carbohydrates, lipids, and nucleic acids. Biochemical abnormalities seen in certain genetic diseases are discussed and correlated with the disease phenotype. Emphasis is placed on DNA, RNA, and protein synthesis, using selected genetic diseases as models. The risks, benefits, and limitations of state newborn screening programs and heterozygote carrier testing are detailed.
The focus of this course is to provide students with an understanding of cancer genetic counseling through case based study of clinical services. This course will provide students with an introduction to the medicine of breast, ovarian and colon cancers, including anatomy and physiology of affected organs, screening modalities and treatment options. Familiarize students with the terminology and vocabulary associated with oncology, pathology and cancer genetic counseling. Instruct students on family and medical history collection, pedigree interpretation and cancer risk model utilization. Inform students about testing criterion, presentation of testing options and interpretation of test results. Explore the psychosocial aspects of hereditary cancer syndromes, family dynamics, patient autonomy and grief.
The objective of the course is to provide students with an understanding of human physiology, beginning with the cell and principles of cellular physiology and continuing through most of the major organ systems. Focus on hereditary diseases and therapeutic approaches will be used to emphasize and teach physiological principles. Course topics will include: membrane transport and the physiological basis of cystic fibrosis, stem cell physiology and bone marrow transplantation, the etiology and physiology of diabetes, pathophysiology of the Multiple Endocrine Neoplasia syndromes, congenital heart malformations and pediatric cardiology, and physiology of the muscular dystrophies and skeletal dysplasias. The course will include student presentations on special topics of their choice in physiology, as well as midterm and final exams.