P507: Newborn genomic sequencing for Duchenne muscular dystrophy: Model-based insights
Year: 2024
Type: article
Abstract: Advances in the treatment of Duchenne muscular dystrophy (DMD), an X-linked pediatric onset neuromuscular disorder, have increased interest in early disease detection via newborn screening. Patients with DMD are typically symptomatic before age 6 years, yet diagnostic delay is common and untreated children usually enter non-ambulatory disease stages by age 12 years. Newborn genomic screening (NGS) may reduce diagnostic delays and allow earlier treatment and therapy initiation, improving patient outcomes.
Source: Genetics in Medicine Open
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4392606963