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?
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
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
15. Genomes and Genomics
Genomics and Human Medicine
Problem B.14d
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.

1
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.
Conduct online research using reputable sources such as medical databases, genetic disorder organizations, or government health websites to gather information about the chosen condition.
Focus your research on the recommended treatment options for the condition. Treatments may include dietary management, enzyme replacement therapy, medication, or other interventions.
Summarize the treatment recommendations clearly, noting if treatments are preventive, curative, or supportive, and whether early intervention is critical.
Optionally, note any genetic counseling or follow-up care recommended for patients and families affected by the condition.

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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 screened for across the United States. It guides early detection of genetic and metabolic disorders to enable timely intervention. Understanding RUSP helps identify which hereditary conditions are prioritized for screening and treatment.
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Hereditary Genetic Conditions
Hereditary genetic conditions are disorders passed from parents to offspring through genes. These conditions often involve mutations affecting protein function or metabolism, leading to disease. Recognizing the genetic basis is essential for understanding disease mechanisms and the rationale behind specific treatments.
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Treatment Approaches for Genetic Disorders
Treatment for hereditary conditions varies widely, including dietary management, enzyme replacement, gene therapy, or symptomatic care. Early diagnosis through newborn screening allows for interventions that can prevent or reduce disease severity. Knowing treatment options is crucial for managing patient outcomes effectively.
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