1. Select one human genetic disorder from the list bellow. This list is not exhaustive and you may choose another genetic disease if you wish.
2. Perform online research on this disorder to determine:
a. The origin of the disorder (what chromosome(s) and gene(s) are responsible for the disorder). Images documenting the location of the gene(s) are encouraged
b. The mode of action of the gene(s) to cause the disorder
c. The timeline for the disorder to present itself
d. The presentation issues of the disorder – what it looks like, or what it does to the person
e. The propensity for a specific population or culture of people to be affected, more so than other populations or cultures, and the rationale for this
f. The percentage occurrence in births per 1000 for the specific population and world-wide occurrence
g. What principle organizations are researching or providing support for those affected by the disorder (at least four)
h. What progress each of these organizations has made in aIDressing the disorder or peripheral issues
i. Whether it is a constitutional or acquired genetic disease
j. Treatment – present and potentially future
List of Genetically Mediated Diseases in Humans
Amyotrophic lateral sclerosis (ALS)
Cleft palate/Cleft lip
Congenital adrenal hyperplasia
Duchenne muscular dystrophy
Factor XI deficiency
Familial Mediterranean fever
Fragile X syndrome
Niemann-Pick A& B diseases
Polycystic kidney disease
Severe combined immunodeficiency
Sickle cell disease
Small cell lung carcinoma
Type C disease
X-linked mental retardation
3. Write up a report on your findings. Include correctly formatted references to all online pages
that you consult to gather your information.
A. What is the purpose of this exercise?
B. What is the prognosis on genetic diseases in the future? Do you believe that microsurgery to “fix” chromosomal aberrations will someday prevent the diseases that are listed in the List of Genetically Mediated Diseases in Humans?