NICHD conducts and supports a variety of clinical research related to newborn screening. Select a link to learn more about these projects.
- Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
This study will investigate the causes of and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with these disorders may have birth defects as well as learning and behavioral problems.
- North Carolina Newborn Exome Sequencing for Universal Screening (NC_NEXUS)
This study is exploring the utility of next-generation sequencing in newborn screening and parental decision making.
- Genomic Sequencing for Childhood Risk and Newborn Illness
This study will assess how genomic sequencing of newborns may affect parental stress levels and subsequent health care choices.
- Prospective Evaluation of Infants With Spinal Muscular Atrophy: (SPOTSMA)
This study will collect clinical outcomes and provide counseling and education to parents of newly diagnosed children.