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Current, Basic and Advanced Telegenetics Information about genetics DNA structure
The George Washington University Medical Center

Genetics Case Studies for Medical Students

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.

Case 1 - G6PD deficiency Case 24 - Neonatal Screening and Tandem Mass Spectrometry
Case 2 - Cystic Fibrosis Case 25 - Amniotic Band Syndrome
Case 3 - Phenylketonuria (PKU) Case 26 - Ambiguous genitalia
Case 4 - Sickle cell anemia Case 27 - Multiple Endocrine Neoplasia Type 2 (MEN2)
Case 5 - Hereditary hemochromatosis Case 28 - Holt-Oram Syndrome and Genetics
Case 6 - AD Polycystic kidney disease Case 29 - Dilated Cardiomyopathy and Genetics
Case 7 - Infant with Down syndrome Case 30 - Familial Adenomatous Polyposis
Case 8 - Fragile X syndrome Case 31 - Hereditary Nonpolyposis Colorectal Cancer
Case 9 - Marfan syndrome #1 Case 32 - Hereditary Hemochromatosis
Case 10 - Tuberous sclerosis Case 33 - Wilson’s Disease
Case 11 - Marfan syndrome #2 Case 34 - Alpha-1 Antitrypsin Deficiency and Genetic Analysis
Case 12 - Retinoblastoma Case 35 - Hereditary Pancreatitis and Genetic Analysis
Case 13 - Alpha-One Antitrypsin Deficiency Case 36 - Cystic Fibrosis and Genetic Analysis
Case 14 - Long QT Syndrome Case 37 - Peutz-Jeghers Syndrome and Genetic Analysis
Case 15 - Hypertrophic Cardiomyopathy Case 38 -Oculocutaneous Albinism
Case 16 - Hereditary Hemochromatosis Case 39 -Achondroplasia
Case 17 - Cystic Fibrosis Case 40 -Osteogenesis Imperfecta
Case 18 - Duchenne Muscular Dystrophy Carrier and Prenatal Testing Case 41 - Cell-Free DNA Screening
Case 19 - Genetics and Schizophrenia  
Case 20 - Ovarian Cancer and Genetics  
Case 21 - Genetics and Alzheimer's Disease  
Case 22 - Genetics and Bipolar Disorder  
Case 23 - Genetics and Schizophrenia  

Last Modified: November 16, 2016
page maintained by Dr. Macri
© 2004 GWUMC