Instructors: Susan Slaugenhaupt and Christopher Newton-Cheh.

Description: Medical practice is rapidly evolving due to advances in the field of human genetics. Translation of basic laboratory discoveries to the clinic can be illustrated by the genetic research cycle:

Definition of phenotypic variation in patient populations --> isolation of genes underlying the phenotypic variation --> characterization in humans and model organisms of the mechanisms that lead from genotype to phenotype --> use of these findings to improve diagnosis, disease management and to bring effective treatments to the patient population.

This course will utilize examples from a variety of human disorders in order to illustrate the successful progression of the genetic research cycle. In addition, we will discuss the ethical implications of genetic research and testing, and have hands-on computer training to teach students how to utilize the relevant genetic databases.

Structure of the course: Each class will focus on a specific genetic disorder and will include a clinical discussion and patient presentation if appropriate, followed by lectures and a detailed discussion of recent laboratory findings. Lecturers will highlight current molecular, technological, bioinformatic and statistical approaches that are being used to advance the study of human disease. There is no exam. Each student will prepare a research proposal.

Prerequisite: Genetics 201 or equivalent

Half course (fall term): Fridays 2 – 5 pm

First Meeting:
First meeting will be Friday, January 27 2012, 2 pm at MGH

Place: Simches Research Center, MGH, 3rd floor. Room 3120 and 5th floor Darwin conference room 5.290.
Transportation will be provided from Vanderbilt Hall at 1:30 pm.
Location & Transportation

Updated: October, 2011