Process


1.  First you will be given a case study prepared by your Chief Resident on a patient who is ill in your clinic.  Each intern will receive a different case study. (See blank sample here).

2.  Each intern will read and review their case study carefully for clues based the patient description and symptoms.  Based on the information provided on the case study, visit the following site in order to explore the various genetic diseases and their symptoms.  This will help you to make your diagnosis.

Make Your Diagnosis                       

Glossary1  Glossary 2 for clarification of terms

3.  Once you have diagnosed what you believe the disease to be, please consult and confirm your diagnosis with your Chief Resident before proceeding further.

4.  Once the disease confirmation has been made, conduct a thorough investigation into that particular genetic disease.

5.  Please print and record your research in your scientific journal  pdf  as a way to guide and organize your research.   For your research, you will need to identify the:

 

  • symptoms 
  • causes
  • incidence
  • tests and screening
  • treatments
  • how it is inherited
  • facts and theories
  • expected quality of life for the patient
  • additional thoughts and questions

6. In order for you to conduct your research, you have been provided with the following Internet resources:

Sites with Various Genetic Disease Information:

Genetics Home Reference:  The U.S. National Library of Medicine provides a service that includes this guide to understanding genetic conditions.  Includes information on what is new, a handbook, glossary, resources, a search box, and the browse option for exploring more information on each disease.  

Genetic Information and Patient Services:  a non-profit organization providing information on the Internet about genetic disorders and birth defects.  Includes definitions of disorders, resources, and a glossary.

Genetic Disorders:  The National Institutes of Health, National Human Genome Research Institute provides an overview of genetic diseases and information on some specific genetic disorders.

Blazing the Genetic Trail, Howard Hughes Medical Institute:  Information on why there are so many errors in our DNA, how genetic disorders are inherited, and how to conquer a genetic disease.

Genetic and Rare Conditions Site, U of Kansas Medical Center:  Includes advocacy and support groups, information on genetic conditions and birth defects, and national and international organizations.

Sites for Specific Genetic Diseases:
 
Alzheimer Disease
 		 Fragile X
 		 Neurofibromatosis
 
Beta-Thalassemia
 		 Hemochromatosis
 		 Phenylketonuria
 
Cystic Fibrosis
 		 Hemophilia
 		 Polycystic Kidney Disease
 
Down Syndrome
 		 Huntington Disease
 		 Sickle Cell Disease
 
Duchenne/ Becker Muscular Dystrophy
 		 Marfan Syndrome
 		 Tay-Sachs Disease
 


7.  Each intern will also need to visit your school or local public library and use (1) print resource to obtain additional information on your disease.  Your print resource may be an encyclopedia, a book, or a magazine.

8.  Remember to always cite your sources that were used for your research and presentation.  There is a space at the bottom of your scientific journal   pdf  for recording citations.  If you need help, following one of these links:
 OSLIS Citation Maker or NoodleBib 5.

Citation Examples:  

Book Citation:   Author's Last Name, First Name Middle Name. Title of Book. City of Publication: Publisher's Name, Year of Publication.

Magazine Citation:  Last Name, First Name Middle Name. "Title of Article." Name of Magazine. Date of Publication: Page Numbers of Article. 

Webpage Citation:  Last Name, First Name Middle Name. "Specific Page or Article Title." Title of Entire Web Site.  Date Web Page Was Last Revised. Sponsoring Organization. Date You Read It <URL>.

9.  Once you have investigated your genetic disease, you will create a MS PowerPoint presentation (guidelines here  pdf ) to present to your fellow medical interns at the 2005 Genetic Disease Conference.  This will be an opportunity for you to give an oral and multimedia presentation using graphics on the results of your research.  Professionals often meet at conferences in order to present and share ideas and discoveries with their colleagues.

10.  As part of the conference and following the genetic disease presentations, you will participate in a brainstorming session with other young, bright, and innovative medical interns on ideas that warrant further investigative research into possible cures or treatments for these various genetic diseases.

11.  Select an intern or have the Chief Resident record the ideas.  Also, as Part II of this session, record questions that you would like to ask a genetic counselor or genetic researcher in order to further your understanding of the diseases.

12.  For the disease that you diagnosed and investigated, what would you recommend to the family of the patient based on what you have learned?  After consulting with your fellow colleagues if needed,

 
  • What tests or screening would you suggest to confirm the diagnosis?
  • Would you recommend further testing of the parents or siblings?
  • How would you explain to the family how the disease is inherited?
  • What treatment would you suggest as the best one?
  • Do you know anyone personally with this type of inherited disease?
  • What is the prognosis for this patient?
  • Once you have learned what it is like living with the disease, do you have any ideas on how to make life easier for this patient?
Remember, as medical interns, it is important to use compassionate and caring attitudes in relaying information to the family and patient.