Table of contents

1. Introduction to Genetics51m
2. Mendel's Laws of Inheritance3h 37m
3. Extensions to Mendelian Inheritance2h 41m
4. Genetic Mapping and Linkage2h 28m
5. Genetics of Bacteria and Viruses1h 21m
6. Chromosomal Variation1h 48m
7. DNA and Chromosome Structure56m
8. DNA Replication1h 10m
9. Mitosis and Meiosis1h 34m
10. Transcription1h 0m
11. Translation58m
12. Gene Regulation in Prokaryotes1h 19m
13. Gene Regulation in Eukaryotes44m
14. Genetic Control of Development44m
15. Genomes and Genomics1h 50m
16. Transposable Elements47m
17. Mutation, Repair, and Recombination1h 6m
18. Molecular Genetic Tools19m
- Genetic Cloning
  9m
- Methods for Analyzing DNA
  9m
19. Cancer Genetics29m
- Overview of Cancer
  21m
- Cancer Mutations
  7m
20. Quantitative Genetics1h 26m
21. Population Genetics50m
- Hardy Weinberg
  19m
- Allelic Frequency Changes
  31m
22. Evolutionary Genetics29m

15. Genomes and Genomics

Genomics and Human Medicine

Genetics

15. Genomes and Genomics

Genomics and Human Medicine

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1:48 minutes

Problem B.14c

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.

Verified step by step guidance

Identify a hereditary condition from the Recommended Uniform Screening Panel (RUSP) core or secondary conditions list. These are genetic disorders commonly screened for in newborns.

Research the selected condition using reliable genetics and medical resources such as genetics databases, medical journals, or trusted health websites to gather detailed information.

Focus on understanding the symptoms that manifest in individuals affected by the condition, especially those that appear if the condition remains untreated.

Investigate the potential consequences or complications that can arise from the untreated condition, including impacts on development, organ function, or overall health.

Summarize the findings clearly, emphasizing the importance of early detection and treatment to prevent or mitigate these symptoms and consequences.

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Key Concepts

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

Newborn Screening and the RUSP

The Recommended Uniform Screening Panel (RUSP) is a list of core and secondary conditions that newborns are routinely screened for in the United States. These conditions are selected based on their severity, treatability, and the availability of effective screening tests. Understanding the RUSP helps identify which hereditary conditions are prioritized for early detection to prevent serious health outcomes.

Hereditary Conditions and Genetic Inheritance

Hereditary conditions are genetic disorders passed from parents to offspring through genes. These conditions can be inherited in various patterns such as autosomal dominant, autosomal recessive, or X-linked. Recognizing the inheritance pattern is essential for understanding the risk of occurrence and the biological basis of the condition.

Symptoms and Consequences of Untreated Genetic Disorders

Many hereditary conditions cause specific symptoms and health problems that worsen if untreated. Early diagnosis through newborn screening allows timely intervention to prevent severe consequences like developmental delays, organ damage, or death. Knowing the untreated progression highlights the importance of screening and treatment.

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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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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.

Key Concepts

Newborn Screening and the RUSP

Hereditary Conditions and Genetic Inheritance

Symptoms and Consequences of Untreated Genetic Disorders

Watch next

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.