Professor of Internal Medicine (Medical Oncology); Chair, Breast Cancer Tumor Board, Yale Cancer Center; Curriculum Director, Office of Education; Thread Leader, Pharmacology, Office of Education; Master Course Co-Leader, Office of Education
Genes and Development
Associate Professor; Director of Continuous Quality Improvement (CQI) Strategy
The Genes and Development course begins with an introduction to foundational genetics principles. Students gain an understanding of how the genome is organized and controls all cellular processes within our cells, the clinical significance of genetic variation among individuals, the available DNA diagnostic tools, and how these tools are utilized in the diagnosis and management of disease. The course then transitions to embryology, presenting how the program for human development is controlled and how deregulation of this program results in birth defects. Students are then introduced to the field of clinical genetics and have the opportunity to apply their genetics knowledge as they learn about common genetic disorders affecting children and adults. This is followed by an overview of the first organ system in the curriculum, the hematologic system. This introduction to benign hematology serves as a foundation for the second part of the course, which focuses on cancer, starting with cancer biology and pathology. In this portion of the course, students are introduced to the types of genetic changes that occur in somatic cells and enable tumorigenesis. Cancer biology and principles of neoplasia are integrated with developmental genetics and embryology, with students gaining an appreciation of neoplasia as a genetically-based aberration of normal development and cellular regulation. This knowledge is further expanded as the students learn malignant hematology before moving on to learning about solid tumors. The course incorporates cancer pharmacology and clinical aspects of drug development and concludes with a broad introduction to the clinical oncology discipline.
- Optional weekly quizzes
- One mandatory, mid-course self-assessment
- End-of-course, pass/fail qualifier
- Recognize and describe indications to refer a patient for genetics evaluation, testing or counseling.
- Outline the technical principles underlying genomic and epigenomic technologies, identify appropriate indications for genetic/genomic testing, and appraise the uses and limitations of the genetic/genomic tests used to study common diseases.
- Compare and contrast genetic and geographic ancestry with the social constructs of race and ethnicity. Give examples of situations in which race, ethnicity, and ancestry correlate with different genetic and environmental risk factors for disease. Explain how use of these variables may contribute to incorrect inferences about health in individuals and groups.
- Describe the types and extent of genetic variation seen in the human genome and outline the potential clinical impact of genetic variation on risk stratification, health promotion, and individualized treatment.
- Discuss the clinical, ethical and social implications of genetic testing in the context of diagnosis of genetic diseases, determination of disease risk, family health and reproductive planning, and genomic analysis for personalized medicine.
- Apply the basic principles of single-gene inheritance to construct and interpret pedigrees, interpret a family history, estimate disease risk for a given proband or unborn child. If necessary, incorporate knowledge of population genetics to calculate genetic risk based on carrier frequency within a population.
- Explain the origins of the main types of numerical and structural abnormalities and predict the possible reproductive outcome for future pregnancies in parents of children with disease-causing chromosomal abnormalities.
- Understand the mechanisms that underlie common genetic disorders with non-Mendelian inheritance such as: reduced penetrance, variable expressivity, uniparental disomy, epigenetics, mosaicism, genomic imprinting and unstable repeat expansion.
- Become familiar with the resources that will allow you to engage in continuing education regarding advances in genetic and genomic medicine and changing indications for and interpretation of genetic and genomic testing.
- Describe the roles of gene expression and cell migration in gastrulation and neural crest distribution
- Describe the transition from a disc-shaped embryo to a tube-shaped body with body cavities • Understand the major properties of blood cells, review and interpret basic blood smears, and evaluate disease conditions giving rise to elevations or reductions in different blood cells • Understand the coagulation cascade and the major diseases giving rise to abnormal coagulation or thrombosis
- Understand blood typing and basic immunohematology in evaluation of hemolytic anemia and microangiopathic hemolytic anemia •
- Explain what constitutes a neoplasm; describe those characteristics (clinical, pathologic), which distinguish benign from malignant neoplasms
- Describe how cancer is currently diagnosed by conventional and molecular techniques
- Describe categories of genetic change with correlation with etiology that can activate oncogenes or inactivate tumor suppressor genes (mutations, translocations, amplification, deletion, epigenetic regulation).
- Outline the current knowledge on the genetics of cancer and explain how genomic information is being used to guide the diagnosis and management of cancer and other disorders involving somatic genetic changes.
- Recognize the major clinical and pathologic features of hematologic malignancies including leukemia, lymphoma, myelodysplastic syndrome, and myeloproliferative neoplasms
- Define fundamental principles of radiologic modalities used in cancer imaging
- Explain the cellular and molecular steps that define tumor progression from in situ to metastatic
- Demonstrate the approach to cancer screening, diagnosis, and initial evaluation of the cancer patient
- Apply fundamental principles of oncology to the treatment of the cancer patient
- Explain the mechanisms of action, mechanisms of resistance, and side effects of drugs used to treat cancer and blood disorders
- Demonstrate the integration of the common treatments, often multidisciplinary, into the care of the oncology patient
- Recognize and recite the treatment of selected oncologic emergencies and cite important features of some of the most common malignancies