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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

aper

Spring 2021

Due April 12

, 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

choice)

Paper is to be single

spaced, font 1

, 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)

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.

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

ecent articles from the

primary

literature.

Examples

Kloner, I.M.,

How

Did Jean Ge

t Her New Gene

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

Journal of Genetic Fashions.

Vol. 2

: 244

254, 2010

Please reference

in text

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

period.

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

, 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)