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Month: September 2020

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of more than 50 inherited metabolic disorders where enzyme deficiency inhibits the ability of the lysosomes present in each of the body’s cells to function normally. Recent discoveries of new therapies coupled with novel screening methods has led to the adoption of newborn screening for several LSDs around…
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Newborn Screening for Spinal Muscular Atrophy (SMA)

SMA is a leading genetic cause of death in infants and toddlers. Two years ago, newborn screening for SMA was recommended in the United States and today over half of states have adopted screening. The federal committee that recommended screening estimated that screening could prevent about 50 infants from needing a ventilator and about 30…
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