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Watkins: Genetic Disorder Research Project: Home

Background Information & Genetic Disorder/Diseases List

A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA.  Abnormalities can be as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes.  In this project, you will research a genetic disorder and find four sources to cite for information.  

 

Important Links: 

 

Genetic Disorders/Diseases: 

  • Achondroplasia
  • Albinism
  • Charcot-Marie-Tooth
  • Cri du Chat Syndrome
  • Crohn's Disease
  • Cystic fibrosis
  • Dercum's Disease
  • Down Syndrome
  • Duane Syndrome
  • Duchenne Muscular Dystrophy
  • Edward's Syndrome 
  • Factor V Leiden Thrombophilia
  • Familial Hypercholesterolemia
  • Familial Mediterranean Fever
  • Fragile X Syndrome
  • Gaucher Disease
  • Hemochromatosis
  • Holoprosencephaly
  • Huntington's disease
  • Jacobs Syndrome
  • Klinefelter Syndrome
  • Marfan Syndrome
  • Myotonic Dystrophy
  • Noonan Syndrome
  • Pautau Syndrome
  • Phenylketonuria
  • Poland Anomaly
  • Porphyria-Zyria
  • Progeria
  • Retinitis Pigmentosa 
  • Severe Combined Immunodeficiency (SCID)
  • Sickle Cell Disease 
  • Spinal Muscular Atrophy
  • Tay-Sachs
  • Triple X
  • Turner Syndrome
  • Velocardiofacial Syndrome
  • WAGR Syndrome

 

Source 1: Gale Science in Context (Database)

 

Most articles will be coming from the Gale Encyclopedia of Genetic Disorders.  Look for the most recent articles in terms of publication date (2020-2023). 

 

Citing in NoodleTools: 

  • Click "Cite" button choose APA
  • Export to NoodleTools
  • Import citation and wait for green confirmation box
  • Refresh NoodleTools page

Source 2: EBSCO Explora (Database)

 

Most articles will be the "Overview" article at the top of the results page and others you will need to filter by "Source Type" and click "Encyclopedias."

 

Citing in NoodleTools: 

  • Click "Cite" button and choose APA
  • Export to NoodleTools
  • Import citation and wait for green confirmation box
  • Refresh NoodleTools page

Source 3: Cleveland Clinic (Website)

 

You will search the Cleveland Clinic's Health Library for your article.  

 

Citing in NoodleTools:

  • Click "New Source" button
  • Select Website then Webpage
  • Complete the template (check for spelling/grammatical errors)
  • Click "Save" button

Source 4: Website (Your Choice)

You can choose from the following websites or find another reputable website on Google like a hospital or foundation website. 

 

Recommended Websites:

Citing in NoodleTools:

  • Click "New Source" button
  • Select Website then Webpage
  • Complete the template (check for spelling/grammatical errors)
  • Click "Save" button