Name:______Per.______Date:______

Inherited Human Disorders Research Project

The goal of this case study approach is to help students understand the genetic basis of various disorders and to participate in the complexities of choosing among alternatives. Students will investigate how altered genes cause changes in cell processes. They will begin to understand how changed cell processes produce overall symptoms in the human organism. Students will find out about available treatments and alternatives available to individuals and families affected by the genetic disorders. After researching the genetic disorder, students will present a case study to the class and students will discuss and identify options. Students will make a list of benefits and negatives for each of the options, including a whole range of issues. Ultimately students will be making informed decisions based on their understanding of facts, the alternatives, and their personal values.

Inherited Human Disorder List:

Name:______Per.______Date:______

  1. Hemophilia
  2. Familial Hypercholesterolemia
  3. Lesch-Nyhan syndrome
  4. Neurofibromatosis
  5. Adrenoleukodystrophy
  6. Tay-Sachs
  7. Duchene muscular dystrophy
  8. Hereditary Spherocytosis
  9. Progeria
  10. Wilson’s Disease
  11. Marfan’s syndrome
  12. Achondroplasia
  13. Sickle Cell Anemia
  14. Down’s syndrome
  15. Huntington’s Disease
  16. Maple syrup Urine Disease
  17. Alzheimer’s
  18. Thalassemia
  19. Type 1 Diabetes
  20. PKU-phenylketonuria
  21. Alkaptonuria
  22. Prader-Willi Syndrome
  23. Long QT Syndrome

Name:______Per.______Date:______

Name:______Per.______Date:______

Research should include:

Name:______Per.______Date:______

·  Description of the Disorder

·  Clinical Findings

·  Complications of the Disorder

·  Genetic defect- gene location and chromosome, mutation, resultant amino acid and protein function

·  Pathology

·  Diagnosis -Detection- Medical and Laboratory tests. Genetic testing

·  Treatment

·  Prognosis

·  Prevention

·  Research Outlook

Name:______Per.______Date:______

·  Issues- cost, drug interactions, confidentiality, counseling,

·  Statistics/Incidence of Disorder

·  Risk of occurrence or probability- depending on relationship to affected individual.

·  Pattern of inheritance and pedigree chart

·  Contact Information/Foundation

·  Interesting Facts

·  Real Life Stories of affected individuals.

Name:______Per.______Date:______

Sources of Information:

Genetics textbooks

Medical or Nursing Journals

OMIM

Dolan DNA

Disease Organizations and Associations

www.genome.gov National Human Genome Research Institute

http://www.kumc.edu/gec/support/ Genetic and Rare Conditions Site

Students will create a power point presentation which will be presented to the class. Additional ancillary visuals and handouts may be used in the presentation. The power point will begin with a case study describing a real life scenario involving the inherited disorder. After hearing the case study classmates will state the dilemma presented. The presenter will explain the various aspects of the inherited disorder via the power point. After learning about the disorder the class will discuss and identify the possible options available. Students will discuss positives and negatives for each option. Students will vote on the various options based on their understanding of the facts, positives and negatives, and their own personal values.