Genetic Disorder Project/Presentation Grading Rubrics

I: Basic Background: Score: ______/ 21

3 2 1 0
The correct, complete name of the disorder is
given. Any additional names that are sometimes A 3-point
Only the correct name
used for the disorder are discussed. Any response, but no The disorder is
DISORDER NAME for the disorder is
abbreviation for the disorder is defined. A reference is never named.
provided.
reference is given for where the information was given.
obtained.
A complete list of the symptoms is given. A A 3-point
reference is given for where the information was response, but no An incomplete list of No symptoms are
SYMPTOMS - LIST
obtained. reference is symptoms is given. given.
given.
All symptoms that are not immediately obvious A list of symptoms is
A 3-point
are described. given with little
SYMPTOMS - response, but no No description is
explanation. Some
DESCRIPTION reference is provided.
confusing symptoms are
given.
not described
A discussion of the impact this disorder has on A 3-point
the lifespan of the individual is given. If there is response, but no An incomplete discussion No description is
LIFESPAN
variability in lifespan, it is discussed. A reference reference is is provided. provided.
is given for where the information was obtained. given.
The incidence is provided in several formats, ex:
 Number of people affected out of 100,000
A 3-point
 Percentage of people affected in the U.S. and The incidence is only
response, but no The incidence is
INCIDENCE worldwide provided in two different
reference is not given.
 Percentage of babies born with condition format.
given.
A reference is given for where the information
was obtained.
A discussion of how the disease is diagnosed is A 3-point
TESTS and given. Discussion of genetic test if available. A response, but no One of the points is not No discussion of
DIAGNOSIS reference is given for where the information was reference is discussed. diagnosis.
obtained. given.
An interesting picture or graphic that shows the A 3-point A picture or graphic is
No picture OR the
PICTURE OR symptoms or incidence of the disorder is response, but no provided, but it doesn’t
picture is not
GRAPHIC provided. The source of the graphic is referenced. reference is relate to the symptoms
referenced.
given. or incidence.

II: Cause of the Disorder Notes: Score: ______/ 21

3 2 1 0
A 3-point
The affected gene is identified both using its
response, but no The gene is only The gene is not
GENE NAME complete name and its abbreviation. A reference
reference is identified in one way. identified.
is given for where the information was obtained.
given.
A 3-point
The affected protein is identified using its
response, but no The protein is identified The protein is not
PROTEIN NAME complete name and abbreviation. A reference is
reference is in one way. identified.
given for where the information was obtained.
given.
A 3-point
The function of the affected protein is described The function of the
response, but no No function
PROTEIN FUNCTION in detail. A reference is given for where the protein is described, but
reference is described.
information was obtained. not referenced.
given.
 Only a general
A 3-point
One specific mutation is statement about
MUTATION - One specific mutation that can cause the disorder response, but no
given, but no source is the mutation is
IDENTIFICATION is given. The source is referenced. reference is
referenced. given OR no
given.
references.
 Nucleotide position in the gene (DNA) is
provided.
A 3-point
 A specific nucleotide base change in the DNA
response, but no Only one of the bullet
MUTATION – DNA is described. The specific affect on the amino Not described.
reference is points is addressed.
acid sequence in the protein is described.
given.
A reference is given for where the information
was obtained.
The specific effect of the change in amino acid on A 3-point
MUTATION – A discussion of the effect
the protein’s structure and function is discussed. response, but no
STRUCTURE / on either the structure No discussion.
A reference is given for where the information reference is
FUNCTION OR the function is given.
was obtained. given.
A picture or graphic is
A 3-point
An interesting picture or graphic that shows the provided and referenced, No picture OR the
PICTURE OR response, but no
structure of the gene or protein is provided. The but it doesn’t relate to picture is not
GRAPHIC reference is
source of the graphic is referenced. the structure of the gene referenced.
given.
or protein.

III: Inheritance of the Disorder Notes 2: Score: ___/ 12

3 2 1 0
Whether the disorder is autosomal or sex-linked A 3-point
The type of inheritance is Inheritance not
AUTOSOMAL / SEX- is identified. A discussion of what this means is response, but no
identified without correctly
LINKED provided. A reference is given for where the reference is
discussion. identified.
information was obtained. given.
Whether the disorder is dominant or recessive is A 3-point
The type of inheritance is Inheritance not
DOMINANT / identified. A discussion of what this means is response, but no
identified without correctly
RECESSIVE provided. A reference is given for where the reference is
discussion. identified.
information was obtained. given.
A pedigree showing the inheritance of this
The pedigree is
disorder in a family, including:
slightly smaller
 at least three generations.
PEDIGREE than required The pedigree is much
 At least 10 individuals. At least three No pedigree.
(X2 = 6 points) (only 2 smaller than required.
individuals must have the disorder.
generations or 7
This pedigree must be made by you from scratch,
people)
not found online and copied.

You will use these 3 sets of notes to construct your report and powerpoint presentation.  I 
will use the same 3 rubrics to grade the report.