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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 recommended treatment for those with the condition

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Select a hereditary condition from the RUSP core or secondary conditions list. 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 recommended treatment for the selected condition. For PKU, this might involve a special diet low in phenylalanine.
Summarize the treatment approach, including any dietary restrictions, medications, or therapies that are typically recommended for managing the condition.
Ensure that the information is up-to-date and reflects current medical guidelines or consensus on the treatment 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 result from mutations in a single gene (monogenic), multiple genes (polygenic), or chromosomal abnormalities. Understanding the inheritance patterns, such as autosomal dominant, autosomal recessive, or X-linked, is crucial for predicting the likelihood of occurrence in families.
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Recommended Treatments

Recommended treatments for hereditary conditions vary widely depending on the specific disorder and its severity. Treatments may include lifestyle changes, medications, gene therapy, or surgical interventions. Researching the latest guidelines and clinical practices is essential to provide accurate and effective management options for individuals affected by these conditions.
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RUSP (Recommended Uniform Screening Panel)

The RUSP is a list of conditions that are recommended for newborn screening in the United States. It aims to identify conditions that can benefit from early detection and intervention, thereby improving health outcomes. Understanding the RUSP is important for recognizing which hereditary conditions are prioritized for screening and subsequent treatment options.
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Related Practice
Textbook Question
Imagine yourself in the same position as Kristen Powers, faced with the decision of whether or not to undergo a genetic test that will discover if you have inherited Huntington disease. List five life decisions or choices that you think are likely to be affected by the results of the genetic test. Do you think you would make the same choice to test that Kristen made? Why or why not?
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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 defect that characterizes 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 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 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 anticipated outcome if treatment is applied

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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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