Assignment

Genetic Disorder Presentation Standard Biology

 Genetic disorders are due to some sort of mutation or anomaly being passed from parent to offspring. Many disorders are due to changes to a single gene, but some are caused by wholesale changes to chromosomes. Disorders that are due to changes in a single gene are almost always recessive; that is, an individual must have two copies of that mutated allele to have the disorder. If only one allele is present, that individual is said to be a “carrier.” Disorders that are caused by having too many or too few of a certain chromosome or certain part of a chromosome are due to errors during meiosis.  In this major assignment, you will research a particular genetic disorder and you will present your findings to the class in a 2-4 minute long talk. You will also design a wiki page to accompany your talk. The requirements are listed below:

You will be researching and presenting information about ______________________________.

The following criteria will be used to evaluate your presentation: > > >> >> > > > > >
 *  The information must be current and correct.
 *  The information must be presented in a concise manner.
 *  Do the research first, and then design your wiki page.
 *  Use bullets appropriately and avoid wordiness.
 *  Do NOT copy information from your references; rephrase things in your own words.
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Organize the information in a logical manner both in your talk and on your wiki page.
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Do not use terms you cannot pronounce or do not understand. Please see me for help.
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Your wiki page should have visual appeal, but it is not the main point of this assignment.
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Finally, provide a separate sheet with references.

<span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: bold; text-decoration: none; vertical-align: baseline;">The following information must be included in your oral presentation as well as your wiki page: > > > > > >> >> >> >> > > > >
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">The name of the disorder along with any other names for the disorder.
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Briefly describe the disorder. Include characteristics, symptoms, cause of symptoms, age of onset, and any relevant ethnic information (does it affect one ethnic group in particular?). Do <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: underline; vertical-align: baseline;">not <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;"> list every symptom or characteristic, only the most relevant and important ones (ie. most common, severe, etc.)
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">The prevelance rate in the general population (world-wide or just in the US if not world-wide).
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Discuss any features unique to the disorder.
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Discuss the genetic basis for the disorder:
 * <span style="background-color: transparent; color: #000000; font-family: Courier New; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: circle; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Is it a sex-linked disorder?
 * <span style="background-color: transparent; color: #000000; font-family: Courier New; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: circle; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Is it an autosomal disorder (dominant/recessive)? If so, why is the trait dominant or recessive?
 * <span style="background-color: transparent; color: #000000; font-family: Courier New; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: circle; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Is the disorder a result of too many or too few chromosomes? Show a karyotype.
 * <span style="background-color: transparent; color: #000000; font-family: Courier New; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: circle; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Is it the result of a duplicated or deleted region of a chromosome?
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">Describe the prognosis for individuals with this disorder. Are there any medical treatments available? What is the average life expectancy? Are there genetic tests available?
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">What is the current research focus or gene therapy (if any) for this disorder?
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">An interesting story about the disorder (about its discovery, famous person afflicted or thought to have been afflicted with the disorder, etc.)
 * <span style="background-color: transparent; color: #000000; font-family: Verdana; font-size: 10pt; font-style: normal; font-weight: normal; list-style-type: disc; text-decoration: none; vertical-align: baseline;"> <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">If the disorder is caused by an inherited mutated gene, you should include a Punnett square that illustrated how two individuals that do not have the disorder can have a child that does. Or, you can include a pedigree that shows several generations of inheritance.

<span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;">When giving your talk, you should not just read your info off of a sheet. You can (and should) use a note card with prompts to keep you on track. Practice your talk with friends, family, in front of a mirror, etc. You should know your talk well enough that you are not constantly stopping or saying, “ummm.” Also, try to limit your use of “like” and “you know.” <span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 12pt; font-style: normal; font-weight: normal; text-decoration: none; vertical-align: baseline;"> Last but not least, please be respectful when giving your presentation. You will be talking about disorders that affect real people and some people in this classroom may have family or friends that are affected by the disorder you are presenting. You may find it easier to talk about the disorder if you present the information about a particular person that is affected by the disorder. You can find many websites dedicated to people with a particular genetic disorder and many of you will find it comforting to humanize your talk and not give just a clinical presentation.