Genetic Disorders Genetic Disorders ProjectProject

The The situationsituation

• You and your partner You and your partner are genetic counselorsare genetic counselors

• The class will play the The class will play the role of parentsrole of parents who just who just discovered they will discovered they will have a child with a have a child with a genetic disordergenetic disorder

• You need to educate You need to educate them about what to them about what to expect, in a professional expect, in a professional manner.manner.

PresentationPresentation

• You need to create a time You need to create a time appropriate presentation (PPT, appropriate presentation (PPT, iMovie, poster with handouts, etc.) iMovie, poster with handouts, etc.) on the basics of the diseaseon the basics of the disease

• This presentation will summarize the This presentation will summarize the disorder and give them all the disorder and give them all the information they needinformation they need

What to includeWhat to include

1.1. Title of the disorderTitle of the disorder• Avoid being Avoid being cutesycutesy or or morbidmorbid

2.2. SymptomsSymptoms

3.3. Population affectedPopulation affected• Sex, ethnic group, age, etc…Sex, ethnic group, age, etc…

What to includeWhat to include

4.4. How the disorder is inheritedHow the disorder is inherited• Sex-linked, recessive, dominant, Sex-linked, recessive, dominant,

missing or extra chromosomemissing or extra chromosome

5.5. Pedigree/Punnett Square or Pedigree/Punnett Square or karyotypekaryotype

6.6. FrequencyFrequency• 1 in 100? 1 in 1,000,000?1 in 100? 1 in 1,000,000?

7.7. Treatments/preventionTreatments/prevention

What to includeWhat to include

5.5. Community resourcesCommunity resources• Family members need support groups Family members need support groups

and resources!and resources!

6.6. Work citedWork cited• Wikipedia gives summaries, but Wikipedia gives summaries, but

won’t countwon’t count as an official source as an official source• If you give information that you didn’t If you give information that you didn’t

cite, its plagiarism!cite, its plagiarism!

ProfessionalismProfessionalism

• You will be graded on your professionalism You will be graded on your professionalism (behavior AND dress) as a counselor AND a parent(behavior AND dress) as a counselor AND a parent

• Be sympathetic and professional towards the Be sympathetic and professional towards the “family”“family”– Do not gloss over the harsh realities that real families in Do not gloss over the harsh realities that real families in

their situation are faced with… their situation are faced with… – ……but still present it with a professional and but still present it with a professional and

dignified attitudedignified attitude• Be prepared to answer questionsBe prepared to answer questions• Do not use words/phrases you Do not use words/phrases you

do not understand – you WILL do not understand – you WILL be called on it!be called on it!

ResearchResearch

• We will have some time in class to We will have some time in class to work on this, but you may need to do work on this, but you may need to do some extra research outside of classsome extra research outside of class

Helpful Hints• If your computer with all of your data crashes,

your data is still your responsibility• Back up ALL data. Save to the computer AND

a flash drive. – To be on the safe side, even email the data to

yourself!• You are expected to have the presentation

ready to go on the assigned due date. No excuses!

• Do not let your partner take all of the data home with them each night! – People get sick! Don’t risk your data being at

someone else’s home when you could/should be working on it!

Sex-Linked Traits

• VERY, VERY, VERY FEW GENETIC DISORDERS ARE SEX-LINKED!!

• What does it mean for a disease to be sex-linked?

• Must be found on the sex (X) chromosome!!

• Check your disease and see which chromosome it is on!