Each student is to pick a genetically-based disease and submit a report on that disease.

Paper is to be single-spaced, font 12, 6-8 pages in length and reference at least primary resources.

Each report must follow the following heading format. (MEANS USE THESE HEADINGS) 

Address each of the heading areas as best as possible.  

1. Name of disorder. – include official medical names and common names

2. Chromosomal location  – describe the location of genes underlying the disease of interest

3. Type of inheritance – discuss the mode of inheritance of the gene(s) involved – dominant, recessive, sex linked, autosomal dominant, multifactorial.

4. Frequency of occurrence. – discuss the likelihood of inheriting this disease. Are their any special

circumstances that increase the frequency within certain populations.

5. Phenotype: – describe the symptoms of the disease. These can be functional or

structural. Also describe the time course of disease development and

the progression/prognosis once the disease has been diagnosed.

6. Genotype: – describe the genetic defect. This should include molecular, biochemical and physiological ramifications.  

7. Interventions: – describe the current state of medical care for the disease. Does the current medical care treat the cause of the disease or just its symptoms?  

8. Future Directions: – does the disease lend itself to new medicines, therapy, and/or biotechnology that is just around the corner? 

9. Literature Cited: List the Authors, Title, journal/book, volume, pages and date. Be sure to include at least five recent articles from the primary literature. 

Medical Genetic Class Paper Spring 2021 Due April 12th, 2021

Each student is to pick a genetically-based disease and submit a report on that disease.

The disease or disorder must be approved by the instructor (simply email me your choice).

Paper is to be single-spaced, font 12, 6-8 pages in length and reference at least primary resources.

Each report must follow the following heading format. (MEANS USE THESE HEADINGS)

Address each of the heading areas as best as possible.

1. Name of disorder. – include official medical names and common names

2. Chromosomal location – describe the location of genes underlying the disease of interest

3. Type of inheritance – discuss the mode of inheritance of the gene(s) involved – dominant, recessive, sex linked, autosomal dominant, multifactorial.

4. Frequency of occurrence. – discuss the likelihood of inheriting this disease. Are their any special

circumstances that increase the frequency within certain populations.

5. Phenotype: – describe the symptoms of the disease. These can be functional or

structural. Also describe the time course of disease development and

the progression/prognosis once the disease has been diagnosed.

6. Genotype: – describe the genetic defect. This should include molecular, biochemical and physiological ramifications.

7. Interventions: – describe the current state of medical care for the disease. Does the current medical care treat the cause of the disease or just its symptoms?

8. Future Directions: – does the disease lend itself to new medicines, therapy, and/or biotechnology that is just around the corner?

9. Literature Cited: List the Authors, Title, journal/book, volume, pages and date. Be sure to include at least
five
recent articles from the
primary
literature.

Examples Kloner, I.M., How Did Jean Get Her New Genes?
Journal of Genetic Fashions.
Vol. 24: 2344-2354, 2008.

Kloner, I.M. and W. Johnson, Jean Shows Off Her New Genes.
Journal of Genetic Fashions.
Vol. 25: 344-354, 2009.

Kloner, I.M., W. Johnson. H.I. Hildebrand, and J.B. Block, Turning Off Jean’s Genes.
Journal of Genetic Fashions.
Vol. 26: 244-254, 2010.

Please reference
in text
as follows, using the above three examples. Place at end of sentence, before final period.

One author (Kloner, 2008)

Two authors (Kloner and Johnson, 2009)

Three or more (Kloner et. al., 2010)

NOTE: Web site citations must be archival – that is – permanent (not changing). General information websites are useful to visit, but you must follow them up and find the original source of information

PLEASE NOTE:
PLAGIARISM is not tolerated and can result in a zero and a write-up with student affairs. Making outlines with notes as you read an article helps prevent plagiarism.

Also, the paper submitted for this course
canno
t have been used for another course.

DO NOT COPY/PASTE information. Read the articles and synthesize the information in your own words.

Paper is to be electronically submitted into the class paper Drop Box on Canvas.

It will be reviewed by TURNITIN plagiarism software.

Remember:
– Disease or disorder must be approved by the Instructor

· Disease maybe a broad category – like neural tube defects.

· Email a written statement containing your name and the disease/disorder you wish to report on.

Suggestion: Often it is interesting to explore a topic that runs in your family.

EVALUTION RUBIC

Points

Overview of the genetic disorder 10

Molecular/genetic characterization 10

Relationship of defects to symptoms 10

Screening/Treatments 10

Future research/treatment 5

Overall degree of detail 25

References

Sources used 8

Citation style 4

Clarity and Style 10

Adherence to format 8

Maximum points 100

Medical Genetic Class
P
aper

Spring 2021

Due April 12
th
, 2021

Each student is to pick a genetically
–
based disease and submit a report on that disease.

The disease or disorder must be approved by the instructor

(simply email me

you
r
choice)
.

Paper is to be single
–
spaced, font 1
2
, 6
–
8 pages in length and r
eference
at least
primary resources.

Each report
must follow

the following
heading
format
.

(MEAN
S USE THESE HEADINGS)

A
ddress
each of the heading
areas

as best as possible.

1. Name of disorder.

–

include official medical names and common names

2. Chromosomal location
–

describe

the location of genes underlying the disease of interest

3. Type of inheritance
–

discuss the mode of inheritance of the gene(s) involved
–

dominant,
recessive, sex linked, autosomal dominant, multifactorial.

4. Frequency of occurrence.
–

d
iscuss the likelihood of inheriting this disease. Are their any special

circumstances that increase the frequency within certain populations.

5. Phenotype:
–

describe the symptoms of the disease. These can be functional or

structu
ral. Also describe the time course of disease development and

the progression/prognosis once the disease has been diagnosed.

6. Genotype:

–

describe the genetic defect. This should include molecular, biochemical
and physiological ramifications.

7. Int
erventions:

–

describe the current state of medical care for the disease. Does the current
medical care treat the cause of the disease or just its symptoms?

8. Future Directions:

–

does the disease lend itself to new medicines, therapy, and/or
biotechno
logy that is just around the corner?

9. Literature Cited:

List the Authors, Title, journal/book, volume, pages and date. Be sure to
include at least
five

r
ecent articles from the
primary

literature.

Examples

Kloner, I.M.,
How
Did Jean Ge
t Her New Gene
s?

Journal of Genetic
Fashions.

Vol. 24
: 2344
–
2354, 2008.

Kloner, I.M. and W. Johnson,
Jean Shows Off Her New Genes
.
Journal of
Genetic Fashions.

Vol. 25
: 344
–
354, 2009.

Kloner, I.M., W. Johnson. H.I. Hildebrand, and J.B. Block,
Turning Off
Jean’s Gene
s
.

Journal of Genetic Fashions.

Vol. 2
6
: 244
–
254, 2010
.

Please reference

in text

as follows, using the above three examples. Place at end of sentence, before final
period.

O
ne author

(Kloner, 2008)

Two authors

(Kloner and Johnson, 2009)

Thre
e or more

(Kloner
et. al
., 2010)

Medical Genetic Class Paper Spring 2021 Due April 12
th
, 2021

Each student is to pick a genetically-based disease and submit a report on that disease.
The disease or disorder must be approved by the instructor (simply email me your choice).
Paper is to be single-spaced, font 12, 6-8 pages in length and reference at least primary resources.
Each report must follow the following heading format. (MEANS USE THESE HEADINGS)
Address each of the heading areas as best as possible.

1. Name of disorder. – include official medical names and common names

2. Chromosomal location – describe the location of genes underlying the disease of interest

3. Type of inheritance – discuss the mode of inheritance of the gene(s) involved – dominant,
recessive, sex linked, autosomal dominant, multifactorial.

4. Frequency of occurrence. – discuss the likelihood of inheriting this disease. Are their any special
circumstances that increase the frequency within certain populations.

5. Phenotype: – describe the symptoms of the disease. These can be functional or
structural. Also describe the time course of disease development and
the progression/prognosis once the disease has been diagnosed.

6. Genotype: – describe the genetic defect. This should include molecular, biochemical
and physiological ramifications.

7. Interventions: – describe the current state of medical care for the disease. Does the current
medical care treat the cause of the disease or just its symptoms?

8. Future Directions: – does the disease lend itself to new medicines, therapy, and/or
biotechnology that is just around the corner?

9. Literature Cited: List the Authors, Title, journal/book, volume, pages and date. Be sure to
include at least five recent articles from the primary literature.

Examples Kloner, I.M., How Did Jean Get Her New Genes? Journal of Genetic
Fashions. Vol. 24: 2344-2354, 2008.

Kloner, I.M. and W. Johnson, Jean Shows Off Her New Genes. Journal of
Genetic Fashions. Vol. 25: 344-354, 2009.

Kloner, I.M., W. Johnson. H.I. Hildebrand, and J.B. Block, Turning Off
Jean’s Genes. Journal of Genetic Fashions. Vol. 26: 244-254, 2010.

Please reference in text as follows, using the above three examples. Place at end of sentence, before final
period.

One author (Kloner, 2008)
Two authors (Kloner and Johnson, 2009)
Three or more (Kloner et. al., 2010)