Due Date: ______

Genetic Mutations Project

As you have learned in class, genetic mutations sometimes occur during DNA replication or during mitosis/meiosis. While some mutations cause no change in how a person looks or functions, and some can be helpful, others can cause dramatic changes and present a variety of challenges that persons must overcome. This prompts the question:

How cansociety respond both medically and compassionately to the physical, emotional, and intellectual effects of genetic mutations?

In our DNA and Genetics Unit of study, you are challenged to incorporate your knowledge about cells, cell division, and DNA/Genetics to research and present your findings on a specific genetic disorder. Your end product should be designed to inform the public about your topic of study and should answer the following:

  • What is the name of the condition/disorder and what is the history behind it? Who discovered it or/and who have done research on this condition?
  • How does this condition occur? Is it sex-linked? Is it hereditary? (If so, is it dominant or recessive?) What are the chances of getting this mutation? Is it because of a specific gene mutation? Or does it chromosomal?
  • What are the sings/symptoms? How is it diagnosed?
  • What types of treatment there are for those with this mutation? How can we help those affected?
  • Include a suggested list of resources that may be helpful to those wanting more information.
  • You are also encouraged to share any other information that you feel is relevant and important for others to know about the genetic mutation you chose to research.

Possible Topics of Study

  • Achondroplasia (Dwarfism)
  • Adenosine deaminase (ADA) deficiency
  • Albinism
  • Apha-1 Antitrypsin Deficiency
  • Cri-du-chat syndrome
  • Cystic Fibrosis
  • Down Syndrome (Trisomy 21)
  • Duchenne Muscular Dystrophy
  • Galactosemia
  • Gardner syndrome (intestinal polyposis)
  • Gaucher’s Disease
  • Hemophilia
  • Huntington’s Disease
  • Jacobsen Syndrome
  • Klippel-Feil Syndrome
  • Leukodystrophy
  • Lou Gehrig’s Disease (ALS)
/
  • Methylmalonic acidemia
  • Maple Syrup Urine Disease
  • Marfan Syndrome
  • Moebius Syndrome
  • Patau Syndrome (Trisomy 13)
  • Phenylketonuria (PKU)
  • Polycystic Kidney Disease
  • Progeria
  • Proteus Syndrome
  • Retinoblastoma
  • Rett’s Syndrome
  • Severe Combined Immunodeficiency (SCID)
  • Sickle Cell Anemia
  • Spinocerebellar Ataxia
  • Tay-Sachs Disease
  • Tourette Syndrome
  • Williams Syndrome

Due Date: ______

Expectations for Final Product:

Area of Focus / 4 / Your score
Visual representation of disorder / Symptoms and genes/chromosomes affected are fully drawn out or printed/shown and are explained in detail / x2
Genetic aspect of disease / Information about the disorder includes:
-Exact name of gene affected
-Inheritance (who gets it?)
-Research that is being done on the disorder / x3
Consequences of disease / Medical – Treatment, Screening/Genetic Testing, At least 3 symptoms/complications of disorder and how patients can cope
Emotional – How can we help those affected?
Intellectual – Are there disadvantages associated? If so, how can we help? / x3
History/
Relevant/
Interesting facts / History of the disorder: How was it diagnosed
At least two relevant or interesting facts are stated and fully explained (does anyone famous have this? Is it more common in certain areas over others?)
Organization / Information is organized effectively with easy understanding.
Outline is completed and handed in on time.
Works cited page/section is complete.
Comments: / Total SCORE / ___/40 points