Human Genetics

AISC 606 Subject & Catalog Number

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 clinical settings (see clinical experiences). Lab experiences are geared to informing students how massively parallel sequencing and DNA arrays are used in the clinic to diagnose rare disorders, to determine carrier status for recessive conditions, 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 and data are being used to prevent, diagnose, manage, and treat disease, and how genetic principles are applied when counseling patients. There are three types of classroom-based sessions.  First, a faculty led state of the art lecture. Second, student led discussions of important published papers that have been chosen to help students learn how to critically analyze the scientific literature and share newly acquired knowledge with others. Third, student led discussions of clinical cases for which genetic technologies and the data they produce play important roles in informing and improving patient care.

Format of clinical/laboratory 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 are considered with respect to clinical and laboratory experiences. Students are also asked to attend 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 ~ 3 mornings or afternoons/week, and clinical/laboratory experiences are scheduled ~ 1 or 2 mornings or afternoons/week.

Course Manager: Shannon Reilly