Procedure

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:
3. 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

1. The mode of action of the gene(s) to cause the disorder
2. The timeline for the disorder to present itself
3. The presentation issues of the disorder – what it looks like, or what it does to the person
4. 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

1. The percentage occurrence in births per 1000 for the specific population and world-wide

occurrence

1. What principle organizations are researching or providing support for those affected by

the disorder (at least four)

1. What progress each of these organizations has made in addressing the disorder or

peripheral issues

1. Whether it is a constitutional or acquired genetic disease
2. Treatment – present and potentially future

List of Genetically Mediated Diseases in Humans

Abetalipoproteinemia

Albinism

Allergies

Alzheimer disease

Amyotrophic lateral sclerosis (ALS)

Anemia

Autism

Batten disease

Bloom’s syndrome

Breast cancer

Bronchiectasis

Burkitt lymphoma

Canavan disease

Celiac disease

Cleft palate/Cleft lip

Cohen’s syndrome

Colon cancer

Color blindness

Congenital adrenal hyperplasia

Crohn’s disease

Cystic fibrosis

Depression

DiGeorge syndrome

Down syndrome

Duchenne muscular dystrophy

Essential pentosuria

Fabry disease

Factor XI deficiency

Familial dysautonomia

Familial Mediterranean fever

Fragile X syndrome

Galactosemia

Gaucher disease

Hemochromatosis

Hemophilia A

Homocystinuria

Huntington disease

Juvenile-onset diabetes

Lupus

Malignant melanoma

Marfan syndrome

Mental retardation

Myotonic dystrophy

Niemann-Pick A& B diseases

Obesity

Parkinson’s disease

Phenylketonuria

Polycystic kidney disease

Rheumatoid arthritis

Schindler disease

Severe combined immunodeficiency

Sickle cell disease

Small cell lung carcinoma

Spina bifida

Tay-Sachs disease

Testis-determining factor

Torsion dystonia

Type C disease

Ulcerative colitis

X-linked mental retardation

Zellweger syndrome

3. Write up a report on your findings. Include correctly formatted references to all online pages

that you consult to gather your information.

Questions

1. What is the purpose of this exercise?

 

1. What is the prognosis on genetic diseases in the future? Do you believe that microsurgery to

“fix” chromosomal aberrations will some day prevent the diseases that are listed in the List of

Genetically Mediated Diseases in Humans?

 

Whathaveyoulearned fromdoing this laboratory?

 

1. …