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Ch. 16 - Genomics: Genetics from a Whole-Genome Perspective
Chapter 16, Problem 14

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The anticipated outcome if treatment is applied

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Select a hereditary condition from the RUSP core conditions list or the RUSP list of secondary conditions. For example, consider a condition like Phenylketonuria (PKU).
Conduct online research using reliable sources such as medical journals, government health websites, or reputable health organizations to gather information about the condition.
Identify the standard treatment options available for the selected condition. For PKU, this might include a special diet low in phenylalanine.
Research and summarize the anticipated outcomes if the treatment is applied. For PKU, this could involve normal cognitive development and prevention of intellectual disability if the diet is strictly followed from an early age.
Compile the information into a concise summary, focusing on how the treatment impacts the progression or management of the condition.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Hereditary Conditions

Hereditary conditions are genetic disorders that are passed down from parents to offspring through genes. These conditions can be caused by mutations in a single gene (monogenic), multiple genes (polygenic), or chromosomal abnormalities. Understanding the specific condition's inheritance pattern, such as autosomal dominant or recessive, is crucial for predicting outcomes and treatment responses.
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RUSP (Recommended Uniform Screening Panel)

The RUSP is a list of genetic and metabolic conditions that newborns are screened for in the United States. It aims to identify conditions that can benefit from early detection and intervention, improving health outcomes. Familiarity with the RUSP helps in understanding which conditions are prioritized for screening and the potential treatments available.
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Treatment Outcomes

Treatment outcomes refer to the expected results of medical interventions for specific hereditary conditions. These outcomes can vary widely depending on the condition, the timing of treatment, and the type of intervention used. Evaluating anticipated outcomes is essential for assessing the effectiveness of treatments and making informed decisions about patient care.
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Textbook Question

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The symptoms and consequences of the condition if it is not treated

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Textbook Question

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The recommended treatment for those with the condition

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Textbook Question

Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information:

The duration of treatment

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Textbook Question
Select one of the hereditary conditions from either the RUSP core conditions list or the RUSP list of secondary conditions and do some online research to find the following information: The frequency of the condition in newborn infants (note any populations in which the condition is more frequent)
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Textbook Question
When the S. cerevisiae genome was sequenced and surveyed for possible genes, only about 40% of those genes had been previously identified in forward genetic screens. This left about 60% of predicted genes with no known function, leading some to dub the genes fun (function unknown) genes. As an approach to understanding the function of a certain fun gene, you wish to create a loss-of-function allele. How will you accomplish this?
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Textbook Question
When the S. cerevisiae genome was sequenced and surveyed for possible genes, only about 40% of those genes had been previously identified in forward genetic screens. This left about 60% of predicted genes with no known function, leading some to dub the genes fun (function unknown) genes. You wish to know the physical location of the encoded protein product. How will you obtain such information?
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