Genetic Disorders Project

Common Genetic Disorders:

Achondroplasia
Albinism
Angelman Syndrome
BRCA 1 or BRCA 2
Chronic Myeloid Leukemia
Color Blindness
Cri du Chat Syndrome
Cystic Fibrosis
Down Syndrome
Duchenne Muscular Dystrophy
EDS
Edward’s Syndrome
Fragile X
Hemophilia
Hemochromatosis
Hypertrichosis
Huntington’s Disease
Klinefelter’s Syndrome
Leber’s Hereditary Optic Neuropathy
Marfan Syndrome
Maple Syrup Urine Disease
Neurofibromatosis
Noonan Syndrome
Patau Syndrome
Phenylketonuria (PKU)
Polycystic Kidney Disease
Prader-Willi Syndrome
Progeria
Sickle Cell Anemia
Tay-Sachs
Thalassemia
Trisomy X Syndrome
Turner Syndrome
XYY Male Syndrome

*Genetic disorder of your choice

 Brainstorm and Warmup

1. List the genetic disorder you will be researching. Then, briefly identify the cause of the
disorder:

Genetic Disorder Cause

Answer the questions below

2. What is a genetic mutation?

3. Define nondisjunction.

4. Distinguish between:

a. monosomy and trisomy

b. Chromosome and gene mutations

c. Germ cell and somatic mutations

You will create a PowerPoint or Google Slides presentation AND a works
cited slide. Your presentation should include the following:

1) Slide 1: Introduce the genetic disorder.

● What are the characteristics and symptoms?

2) Slides 2 and 3: What causes this disorder?

● What is the genetic cause?
▪ Chromosome mutation: include the type of mutation (deletion,
trisomy, monosomy, etc.), specific chromosome number effected
▪ Gene mutation: include the gene affected, how the gene is changed,
and what the protein the gene codes for does (relate back to the
symptoms if applicable)
● How is it inherited?
▪ Spontaneous mutation?
▪ Autosomal or sex-linked?
▪ Recessive, dominant, etc.

3) Slide 4: How common is this disorder?

● Incidence: What portion of human population is affected by disorder?
● Prevalence: Is any particular segment of the population at greater risk
(gender, ethnicity, etc.)? Why?

4) Slides 5 and 6: How is the disorder diagnosed?

● Why would someone get tested for this disorder?
● When is it tested for (prenatal, infancy, adult)?

5) Slides 7 and 8: What treatments are available for this disorder and its symptoms?
● Medications, procedures, therapies, support, etc.

6) Slide 9: What is the prognosis?

● What is the life expectancy for individuals with this disorder?
● What current research is being done to develop a cure? Give a brief summary
of who, where and what.

7) Slide 10: Include your citations on the last slide of your presentation.
● You must include 5 citations.
● 2 must be from articles you have read
Genetic Disorder Research Presentation Rubric

Exceeds Meets Below

Criteria
Expectations Expectations Expectations
What is this
Fully explains Touches on some Does not explain
disorder?
characteristics and characteristics characteristics
(_ points)
symptoms and symptoms and symptoms
Explains genetic
What causes this Fully explains the Does not explain
cause and
disorder? cause & how it is genetic cause and
inheritance in
(_ points) inherited inheritance
basic terms
How common is this Fully explains both Explains general Does not explain
disorder? incidence and incidence and incidence and
(_ points) prevalence prevalence prevalence
General
Fully explains why, Does not explain
How is this disorder explanation for
when, and how a why, when, or
diagnosed? why, when, and
person would be how testing
(_ points) how testing
tested occurs
occurs
Fully explores
What treatments are medications, Mentions some Does not explore
available? procedures, treatments but available
(_ points) therapies, & overly general treatments
support
What is the Fully explains life Briefly mentions Does not mention
prognosis? expectancy and life expectancy life expectancy
(_ points) research for a cure and research and research
Genetic Disorders
Completely done Somewhat done
worksheet Not completed
with accuracy with accuracy
(_ points)
Writing was not
Writing in a
completely done Writing was
PowerPoint/ Google professional and
in a professional poorly executed
Slides serious manner;
manner and and less than 10
(_ points) minimum of 10
minimum of 10 slides
slides
slides
Citations (__ Has more than 5 Has less than 5
Has 5 citations
points) citations citations
Presentation was
professional, spoke Presentation was
Presentation at an appropriate informal, hard to Did not give a
(_ points) volume, and did hear, and read presentation
not read from the from the slides.
slides.