MDTS 500 Fall 2018 Student Presentations
You are expected to prepare a ~35 min (40 min max) lecture on the disease you have been
assigned. Your lecture must include a Powerpoint presentation but feel free to add any
additional teaching elements you feel are appropriate and will help teach the class about
the disease in question. The information covered on these diseases will be included on
the final exam.
As a component of your presentation, you must include a discussion of a recent
medical/scientific publications (accessed through Pubmed) relating to the disease that
would be of interest to the class. You must discuss possible publication choices with
course directors and receive approval prior to final selection (see dates below). The
paper should be described in “journal club format” the relevant background,
objectives/hypothesis, methods, results, and conclusions of the paper. You can use your
discretion to only present the important findings of the paper if appropriate/applicable.
The discussion should explain in detail the purpose, results and conclusions of the study.
Do not describe methods in detail, other than to describe experiments/assays performed
that may be unfamiliar to your classmates. NOTE: Additional papers can be used for
information on the disease, but one should be discussed in detail as described above.
Presentations will be given on 11/19/18, 11/26/18, and 12/3/18. All presentation
must be submitted electronically on 11/19/18. We will select at random which group
presents. Students must get their paper approved by Dr. Sachs and/or Dr. Bruno by
11/16/18. Please provide an electronic copy of the paper (PDF) by 11/16/18 for posting
on blackboard. Failure to comply with the deadlines will result in a deduction to your
overall grade.
Below is a general guideline for topics to discuss during your presentation, but it is just a
guideline. Not all suggestions are applicable to every disease. Remember this is a
Molecular Diagnostics course so the focus of the lecture should be on molecular
aspects of the disease:
For genetic disorders, describe the normal function of the gene(s) in normal
physiology.
Describe the pathophysiology of the disease-i.e. how an altered protein can lead to the
clinical manifestations of the disease.
Describe the genetic basis and inheritance pattern of the disease; how prevalent the
genetic defect is and what are the common DNA changes that occur to cause the
disease (some diseases may have more than one mutation associated with them, be
sure to cover all potential molecular mechanisms)
What should families with the disorder know about risk of inheritance?
Describe in detail the molecular diagnostic tests for the disease (and if you see a
possible alternative, suggest a different test that could be used).
Provide examples of treatments available and/or potential candidate therapeutics
(pharmacologic, gene therapy, surgery, etc.)
Present your scientific publications experimental outcomes
Critically describe elements of your selected publications experimental design
Interpret and defend (or deconstruct) the conclusions made by the publications
authors
Groups – Assignments
Michelle Steele – Cystic Fibrosis
Ugochi Ndubuisi-- Fragile X Syndrome molecular focused
Julie Bjerring – Huntington’s Disease
Martina Zamponi – Werner’s Syndrome
Ebonee Mitchell – Muscular Dystrophy
