| This web page is designed to enable Medical
Students an education experience in Medical Genetics using
Case Studies. We will present you with a clinical case
including a known genetic or metabolic disorder. Following
the presentation will be several questions including:
1) definition of terms, 2) pathophysiology, 3) type of
genetic or molecular defects, and 4) ethical, legal, and
societal implications (ELSI) of this topic.
Because we learn in many different ways, we will present
you with several references (see list of texts), and
electronic information from which to choose. One very
powerful tool to use in learning genetics is OMIM
(On-line Mendelian Inheritance of Man), a genetics
database supported by Johns Hopkins University and the
Department of Energy. Follow the OMIM
link to begin a search. Enter the disease of interest;
you will be presented with a list of possible genetic
diagnoses associated with this term. Choose one of these
and you will be presented with a list of options including
clinical synopsis, text, and genetic locations from
which to choose.
Let us try these exercises together. Read the case
study, search OMIM and then go back to the case study
page and answer the questions from what you have learned.