Medical Genetics II

Catalog description

The second semester of this year-long course presents a broad overview of concepts in medical genetics including natural history, management and counseling strategies for major pediatric and adult genetics diagnoses and syndromes. Topics covered this semester include single gene disorders, bleeding and clotting disorders, hemoglobinopathies, adult liver disease, connective tissue disorders, cardiovascular genetics, psychiatric genetics, neurogenetic conditions such as epilepsy, movement disorders, ataxias, Huntington disease, and ALS, as well as classic genetic conditions identified by the organ system involved, such as cystic fibrosis. Students will learn the methods available for genetic testing, diagnosis, and treatment of genetic conditions. Students will be exposed to future directions of clinical genetics and genetic counseling and its impact on the management and treatment of common conditions. Therapeutic approaches and different modalities to treating genetic diagnoses will be reviewed, including approved gene therapy treatments as well as investigational therapies and clinical trials. Students will actively engage in Clinical Case Presentations and a Clinical Research Presentation. Course directors will attend each class, and guest lecturers with relevant clinical expertise will be invited to share their clinical knowledge.