English
SpanishTrusted Resources: News & Meetings
Latest announcements and gatherings
Targeted NGS Seen as Best When Screening for SMA and Its Carriers
Targeted next generation sequencing (NGS) — a powerful genetic method that can identify mutations in several genes simultaneously — is superior to two commonly used genetic tests for the screening of spinal muscular atrophy (SMA), a study shows.
These findings highlight targeted NGS as a reliable and promising approach for SMA screening, particularly in identifying disease carriers, the researchers noted. The study, “Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene,” was published in the journal Scientific Reports.
Nearly all SMA cases are caused by the complete loss of exon 7 in both copies of the SMN1 gene — one inherited from the mother and one from the father. Exons are the sections of a gene that contain the information to generate proteins.
BookmarkRelated Content
-
Spinal Muscular Atrophy 2019: SMA Pathophysiology, Diagnosis and Clinical Presentationshttps://www.youtube.com/watch?v=cUuWue8M...
-
Gene Therapy for SMA Type 1: Evelyn’s Storyhttps://www.youtube.com/watch?v=yRrqbvUv...
-
Spinal Muscular Atrophy: Types and GeneticsSpinal Muscular Atrophy (SMA)SMA is a ra...
-
Natural History of Spinal Muscular Atrophy in Children: An Analysis of 117 CasesObjectives: To study the natural history...
-
The Antisense Oligonucleotide Nusinersen for Treatment of Spinal Muscular AtrophySpinal muscular atrophy (SMA) is a rare,...
-
Developing Motor Neurons in SMA Show Altered Protein ProductionMotor neurons derived from people with s...
-
Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian PerspectiveSpinal muscular atrophy (SMA) is the sec...
Powered by
In partnership with
