AISC606.0

Human Genetics

Credits: 4 CREDITS (2P+2B)
Sites: HMS and Clinical Sites
Director(s): David Miller, Matthew Warman
Offered: January
Location: HMS - Harvard Medical School (0)
Open to Exclerks: No (HMS only)
Description: Summary: This course examines genetic principles and experimental approaches to address fundamental questions about human variation, health, and disease. Students have clinical opportunities to see how genetic information is used in a wide variety of fields (see clinical experiences). Diagnostic lab experiences are geared to informing students how massively parallel sequencing and DNA arrays are used in forensics, to diagnose disease, or to estimate disease risk for common conditions, such as cancer, heart disease, and Alzheimer disease. These clinical and lab experiences are complemented with seminars on state-of-the-art topics including human genetic databases, forensic genetics, polygenic risk scores, cancer genetics, gene therapy, gene editing, and clinical trials. At the conclusion of this AISC, students will understand how genetic technologies are being used to prevent, diagnose, manage, and treat disease, and how genetic principles are applied when counseling patients about genetically-influenced diseases. Format of classroom-based sessions: Class each day begins with a student-led discussion of the previous day’s topic and its assigned scientific paper. This is followed by a case/problem-based introduction to the present day’s topic to set the stage for the state-of-the-art seminar by course faculty or a guest lecturer. After each day’s seminar, students are given a primary research paper to read before the next class. This paper is intended to help solidify knowledge about the seminar topic, teach students how to read and critically analyze the genetic scientific literature, and enhance the students’ ability to share newly acquired knowledge with others. Format of clinical/field experiences: Students attend 1 or 2 outpatient clinics/week in disciplines such as general genetics, cancer genetics, reproductive genetics, developmental disability, cardiovascular genetics, neurodegenerative disease, psychiatric genetics, vascular anomalies, skeletal dysplasia, and newborn screening. Students will also be able to spend time in a diagnostic lab, where they will learn how DNA/RNA sequencing and arrays are performed and interpreted. When possible, student preferences will be taken into account with respect to clinical and laboratory experiences. Students are also asked to attend the Medical and Population Genetics Meeting at the Broad Institute (Thursdays 9:30-11AM) and Genetics Walk Rounds at BWH (Wednesdays 10-11AM). Anticipated schedule: All AISCs are full time courses. Students are expected to devote at least 40 hours per week to scheduled sessions and preparatory work. Classroom sessions are held five afternoons a week; clinical experiences take place Monday, Tuesday and Friday mornings at various hospital sites.