Medical Genetics 601

Medical Genetics (MDGEN) 601 - Clinical

A directed reading and seminar course based on papers taken from the recent literature of medical genetics. The course consists of lectures on a specific topic in medical genetics and oral presentations of the current literature by students. Selected topics vary so that students may take the same course, but examining a different topic for additional credit. Prerequisite: consent of the Department of Medical Genetics.

Winter Term 2023 - Tuesdays, Lecture 1:00 - 2:15 PM, Journal Club 2:15 - 3:00 PM (Delivered in person Room 8-56 MSB)


Dr. Peter Kannu: (Course Evaluator)
Dr. Saadet Andrews: (Course Coordinator)

Please email instructor if there are questions or to arrange an on-line appointment if required.

Introduction to Medical Genetics
This course will serve as an introduction to human genetics seen through the lens of physicians and scientists working in the area. Clinical and Metabolic Geneticists diagnose and manage individuals affected by many different Mendelian conditions. We will utilize specific examples of diseases seen in the genetic clinics to illustrate key genomic principals. Current approaches to genomic diagnosis including genomic sequencing, RNA sequencing and epigenetic testing will be discussed. We will review how genetic variants are classified as disease causing vs benign. Current treatment approaches for Mendelian disorders such as gene therapy will be reviewed using treatments currently available in the clinic. We will conclude with a discussion on the ethics of prenatal diagnosis.

Instruction consists of lecture material, discussion and student-directed learning sessions. There will be a focus on reading and discussion of current research articles. Students are expected to read and critically evaluate research articles and participate in group discussions of topics. Students will be expected to present a critical review of papers that are assigned as well as prepare a grant proposal on a topic that was discussed in class.


The Tuesday class will consist of a lecture by an instructor providing background on the topic for that week. A journal club presentation and discussion of a paper relevant to the theme of that week will be presented by one of the students on Tuesdays after lecture and supervised by lecturer.

It is expected that all students will have read papers assigned for each class and will participate in discussions.