Genetic Disorder Project
Objective: Students will research a genetic disorder that affects human health, and create
informational, power point to display the information.
Disorder List: (star the disorder for which you have SIGNED UP)
Achondroplasia
Alzheimer Disease
Angelman Syndrome
Barth Syndrome
Beta-thalassemia
Canavan disease
Cri du chat syndrome
Cystic Fibrosis
Duchenne/Becker MD
Edward's Syndrome
Fragile X syndrome
Hartnup's Disease
Hemochromatosis
Hemophilia
Huntington’s Disease
Hurler Syndrome
Klinefelter Syndrome
Marfan Syndrome
Neurofibromatosis (NF)
Patau’s Syndrome (trisomy 13)
Phenylketonuria (PKU)
Polycustic Kidney disease
Prader-Willi Syndrome
Progeria
Proteus Syndrome
Rett Syndrome
Rubinstein-Taybi Syndrome
Sickle cell anemia
Tay-Sachs Disease
Treacher Collins Syndrome
Trisomy 21 (Down syndrome)
Turner’s Syndrome
Waardenburg Syndrome
Williams Syndrome
Wilson's Disease
XXX Syndrome
Project Requirements
1) Name of Genetic Disorder
a) Alternative names
b) Related disorders; is the disorder related to a family of disorders?
2) Brief history of the disease
a) When was the disorder first described and by whom was it described?
b) Any historical significance of the disease…any well known people suffer from this genetic disorder.
3) Incidence
a) a) How common is this disorder? (be specific: 1 in 100,000, etc)
b) b) Is this disorder particularly common in certain ethnic groups or in one gender? Why?
4) Cause/ Relationship of disorder to genetics
a) a) What Chromosome pair is affected- to many? Show a Karyotype.
--Too many ( Trisomy) ? Not enough? (Monosomy) or missing a part/piece
-- Is it sex linked?
b) b) What Gene is affected – (name/number)
-- Nucleotide deletion, Substitution, run-on, addition, mutation?
-- Is there a specific amino acid (specific protein) sequence that is being affected?
c) c) Is it sex related (get from mom or dad- but not sex chromosome linked) or does one sex tend to be a
carrier
d) d) Is it a Dominant or recessive trait? (Do you have to only have 1 copy or two to get it?)
5) Symptoms of this disorder
a) a) Onset: when is disorder first observed
b) b) Detailed symptomatic description of the disorder
c) c) Physical and mental symptoms
d) d) Describe the developmental stages of the disorder Life expectancy
6) Testing and Screening
a) How is this done? (Name of test, when done, who should be screened)
7) Treatment
a) a) Describe the ways in which this disorder is commonly treated.
b) b) How might the quality of life be improved for a person with this condition?
c) c) Is there a cure, gene therapy? , Medication? Solution?
d) d) What kind of treatment might be available in the future?
8) Misc. Project Requirements
Must site at least 3 references on the last slide (proper bibliography form)
A minimum of 7 pictures (one per page). They can be personal pictures of the disorder, karyotypes, or anything
related.
Project Due Date: JANUARY 6, 2012