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Janet A. De Souza-Hart
Associate Professor of Biology
janet.hart@mcphs.edu
School of Arts & Sciences
MCPHS University
A Family in Need: In-Class Case Study on Cancer Genetics 

This case is designed as an in-class, problem-based learning activity for students to learn about several innovative medical applications of molecular biology. Students assume the role of a second-year medical student assigned to work with a pediatric oncologist who has just biopsied a tumor-like growth in the adrenal gland of her 17-year-old patient, Lee F. After taking Lee’s family history and performing a pedigree analysis, students review clinical and genetic characteristics of several syndromes associated with adrenal cancer. Students then explore various diagnostic and biomedical research techniques such as PCR, DNA sequencing, and pre-implantation genetic diagnosis. The case concludes with a consideration of how to treat Lee’s condition with the help of gene cloning and the potential of gene therapy. Although originally written for an upper-level college genetics course, the case could also be adapted for an introductory molecular/cellular biology course, a non-majors biology course, or a professional school medical genetics course. The case has two versions: an "in-class version" and an "Internet version." This version is the in-class version.  The other, Internet-enhanced version requires that students work more independently as they use various websites and databases to discover key pieces of information for the case and is completed outside of class.


A Family in Need: Internet-Enhanced Case Study on Cancer Genetics 

This problem-based learning case was designed for students to learn about several innovative medical applications of molecular biology. Students assume the role of a second-year medical student assigned to work with a pediatric oncologist who has just biopsied a tumor-like growth in the adrenal gland of her 17-year-old patient, Lee F. After taking Lee’s family history and performing a pedigree analysis, students review clinical and genetic characteristics of several syndromes associated with adrenal cancer. Students then explore various diagnostic and biomedical research techniques such as PCR, DNA sequencing, and pre-implantation genetic diagnosis. The case concludes with a consideration of how to treat Lee’s condition with the help of gene cloning and the potential of gene therapy. Although originally written for an upper-level college genetics course, the case could also be adapted for an introductory molecular/cellular biology course, a non-majors biology course, or a professional school medical genetics course. The case has two versions: an "in-class version" and an "Internet version." This is the Internet-enhanced version that requires that students work more independently as they use various websites and databases to discover key pieces of information for the case.  It is designed to be distributed to students to complete outside of class using an Internet-connected computer.


Drug Wars: An Epic Tale of Asthma and Bacterial Pneumonia 

This case study is based on real events that the author experienced with her 10-year-old daughter. Although the names have been changed, all of the events (symptoms, diagnoses, treatments, types of healthcare professionals) are recorded exactly as they occurred. Both asthma and pneumonia are common in the United States (and globally). Many of the drugs described in the case study are frequently prescribed for a wide variety of ailments. The four “episodes” that constitute the case cover (1) a study of asthma triggers, incidence, and treatment; (2) side effects and possible medication errors associated with steroids; (3) causes, diagnosis, treatment, and prevention of community-acquired bacterial pneumonia; and (4) the mechanism of action of two different antibiotics. The “epilogue” explores a few larger themes related to healthcare and public health (e.g., continuity of care, drug resistance, asthma prevention programs). The case could be used in an undergraduate, upper-level infectious disease, microbiology, public health, or physiology course or in a graduate-level health professions program.


The Path of a Pathogen: The Past, Present, and Future of Zika

Scientists and healthcare professionals initially exhibited little concern over the Zika virus even after evidence of human infection was first identified in 1952; Zika appeared to be both rare and unassociated with morbidity or mortality. Around 2015 all of this changed as journalists, scientists, public health officials, and laypeople scrambled to learn about its varied modes of transmission and devastating consequences (e.g., birth defects and autoimmune disorders). Although research continues to rapidly evolve, this case study directs students to reliable scientific sources (e.g., Centers for Disease Control and World Health Organization) that will likely continue to provide the most current information in order to explore questions such as: Where did the virus come from? How does it spread? What can we do to prevent it? Students will also consider the public health challenges and possible solutions associated with emerging infectious diseases. The case was originally written for an upper-level biology or public health course in which students already have some basic background knowledge regarding viruses, vaccines, and infectious disease.


The Sound of DNA: Musical Gene Expression

The steps involved in transcription and translation can be difficult for students to comprehend. Relating popular culture references (such as song titles) to protein sequences can help students understand the conversion of DNA and RNA information to proteins. In this case study, music is used as an avenue for students to approach the processes of converting genetic sequence into protein sequence. Music is also used to highlight mutations in a sequence, as is the case with an example using Huntington disease. This directed case study is designed for a first-year introductory biology course or high school course that covers gene expression. Students should be familiar with some basic biochemistry (what amino acids and nucleotides are, what enzymes do, etc.) and the structure of open reading frames, codons, and basic knowledge of transcription and translation in preparation for this activity.