The Importance of Newborn Screening

Newborn screening is essential for identifying genetic conditions, such as Leber congenital amaurosis (LCA), at the earliest possible stage. As LCA is an early-onset inherited retinal disease with severe vision loss at birth, early diagnosis is necessary for timely medical intervention, access to specialized care, and critical support for families. According to the National Organization for Rare Disorders (NORD), newborn screenings detect approximately 14,000 infants each year with conditions that could affect their development or survival if left undetected.

The sudden shutdown of the federal committee, the Recommended Uniform Screening Panel (RUSP), which helps guide which conditions are included in newborn screenings is alarming. Without the committee, progress would slow and create a serious threat to the consistency of newborn screening nationwide.

The National Organization for Rare Disorders (NORD) is advocating for the reinstatement of this committee and continued investment in comprehensive, state-wide newborn screening programs. Hope in Focus signed on to a letter of support to HHS Secretary Kennedy. As members of the LCA community, we push our community to recognize the importance of preserving and advancing early detection for rare diseases.

We encourage our community to spread awareness of newborn screening programs and rare disease research.