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

Key Concepts

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 identifying how these conditions manifest in individuals and families.

RUSP (Recommended Uniform Screening Panel)

The RUSP is a list of genetic and metabolic 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. The RUSP is divided into core conditions, which are universally screened, and secondary conditions, which may be screened based on specific circumstances or state policies.

Genetic Defects

Genetic defects refer to abnormalities in the DNA sequence that can lead to hereditary conditions. These defects can result from various factors, including mutations, deletions, or duplications of genetic material. Identifying the specific defect associated with a hereditary condition is essential for diagnosis, treatment options, and understanding the condition's inheritance pattern.