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.

Verified step by step guidance

1. Choose a hereditary condition from the RUSP (Recommended Uniform Screening Panel) core or secondary conditions list. For example, you might select Phenylketonuria (PKU) or Cystic Fibrosis.
2. Research the genetic basis of the chosen condition, focusing on the specific gene or genes involved. Identify the type of mutation or defect that causes the disorder, such as a point mutation, deletion, or insertion.
3. Understand how this genetic defect affects the function of the gene product (usually a protein), and how this leads to the symptoms or characteristics of the condition.
4. Summarize the molecular defect by describing the gene involved, the nature of the mutation, and the resulting biochemical or physiological impact.
5. Optionally, explore how this defect is inherited (e.g., autosomal recessive, autosomal dominant, X-linked) to deepen your understanding of the hereditary pattern.

Key Concepts

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. Understanding the RUSP helps identify which hereditary conditions are prioritized for early detection to prevent severe health outcomes.

Genetic Defects and Mutations

A genetic defect refers to an abnormality in the DNA sequence that causes a hereditary condition. These defects can be mutations in a single gene or larger chromosomal changes, leading to altered protein function or regulation, which underlies the disease.

Hereditary Condition Pathophysiology

Pathophysiology describes how a genetic defect disrupts normal biological processes, causing the symptoms of a hereditary condition. Understanding this mechanism is essential to link the genetic defect to clinical manifestations and potential treatments.