Molecular biology and genetics in modern medicine

Lectures: 2 sessions / week, 3 hours / session

Molecular biology and genetics have become a critical element in the practice of medicine. This course is designed to give you a firm and detailed understanding of the impact of molecular biology and genetics on medicine and the connections between basic research, medical knowledge, and the perspective of patients who are impacted by our increasingly detailed conception of genetics in medicine.

We will familiarize you with basic concepts in genetics and molecular biology through reading, problem solving and analysis and discussion of primary data. An important goal of the course is to bring you to a level of understanding which allows you to read and understand the primary research literature in the field. To accomplish these goals there will be a number of activities you will be expected to complete: "homework" assignments consisting of problem sets and/or assigned readings with questions to answer, discussion sections in which students will present the findings of primary research papers, and a clinical project and paper for which students will be matched with a clinician/scientist.

Lectures in the traditional format will be complemented by a series of "clinics" coordinated with basic science sessions. These clinics will be held in the lecture hall and presented by practitioners in the local medical community accompanied by their patients who together form an expert team in educating you on each topic. We expect you to participate actively in clinic.

Out of courtesy to the patients, we ask you not to leave early from the clinics, and also to dress respectfully. Additionally, please be mindful of using your laptops excessively during these sessions. The patients who have taken time out of their lives to share with you their experiences are eager for you to inquire in a sensible and sensitive way about issues that bring them to clinic. It is critical that you be on time for clinical sessions. Students should never walk out during patient presentations.

Strachan, T. Human Molecular Genetics. 3rd ed. New York, NY: Garland Science, 2003. ISBN: 9780815341840.

The textbook will give basic discussion of most topics covered in the course. It should be noted, however, that the level of depth with which most topics will be covered will be greater than in this (or any other) text. Review articles and articles from the primary literature will complement the text.

The subject matter is taught as an advanced course focusing on molecular biology and genetics but it will also integrate aspects of biochemistry, cell biology, physiology... Students should have a basic background (undergraduate course) in Molecular Biology and Genetics.

To help you acquire mastery of the material, there will be written assignments that will act as learning tools for the material presented in both lectures and the clinics. These assignments will come in two forms: problem sets and paper reading assignments.

Problem sets which address concepts you will be expected to master will be posted on a regular basis.

You will receive a series of assigned papers, usually a primary research paper and an accompanying review article, and you will be expected to read these and address a series of short questions which are directed at basic concepts in each pair of papers.

An important goal in the course is to give you experience in the presentation and discussion of scientific findings. To accomplish this goal, we will meet Friday mornings in smaller discussion groups. In these groups we will discuss a paper or papers assigned each week which addresses a question of direct significance to the subject matter of the course. A group of three or four students in each section will be assigned to present background material for the paper, describe the major experiments conducted and findings of the paper and lead the group discussion each week. All students will be expected to participate in the discussion and should come to sections having read the provided paper(s) and any assigned accompanying supporting material and be ready to discuss these materials in depth. Each student will present twice during the semester.

You will be introduced to the relationship between the world of the laboratory and the world of the clinic through an individual project. To carry out this project we will introduce you to a clinician-researcher who will serve as your mentor and contact point. The specific goal of this project is to provide you with a first hand view of the issues and experiences which occur as modern molecular biology meets the world of individual experience from the perspective of the patient and the family. You will be expected to meet with patients and family members either in the context of the clinician's activities or individually through contacts made for you by the clinician. However, you are expected to go beyond simply following the clinician in his or her patient contact. Your paper should synthesize the research and clinical implications of the genetics and molecular biology underpinning the disease.

The choice of focus for your individual project and paper is one that we want you to resolve as soon as possible. We will circulate a list of possible mentors and topics. Once you have been assigned a topic, you will be responsible for contacting your clinical mentor and arranging a meeting. This should be done as early in the term as possible. We know that you have busy schedules, but the clinicians are busier than you are. You will have to work around their schedules, so do not wait until the last minute to initiate your project.

Your individual project will lead to the completion of a 10-12 page paper which will be read and discussed by a small group including your faculty section leader and fellow students during the final week of class. The content of this paper should be original: a compilation of downloaded texts is not acceptable nor will it help you absorb the material. Please see a separate handout for detailed requirements for the paper.

Discussion section example

Muscular dystrophies

A. Giersch and TA's

R. Brown

Mendelian genetics, part 2

Cystic fibrosis

D. Housman

R. Parad

Discussion sections

Thalassaemias

Students

D. Nathans

Mechanisms of mutation

Hemophilia

D. Housman

E. Neufeld

Discussion sections

Mithochondrial disorders

Students

P. Greenstein

Chromosomes, part 1

Prenatal diagnostics

A. Giersch

L. Holmes

Students

A. Giersch

William's syndrome

Chromosomes, part 2

B. Pober

A. Giersch

Discussion sections

Newborn screening

Students

H. Levy

Deafness

Genetic deafness

A. Giersch

M. Kenna

Trinucleotide repeats

Huntington's disease

D. Housman

J. Cha

Discussion sections

Myotonic dystrophy

Students

P. Greenstein

Discussion sections

Rett syndrome

Students

O. Khwajai

Discussion sections

Cancer

Students

D. Housman

Discussion sections

Leukemia

Students

G. Daley

Complex traits

Hereditary Breast Ovarian Cancer

D. Housman

J. Garber

Genomic and epigenomic studies of human cancers

Gene therapy

Discussion sections

Review

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