PacBio (NASDAQ: PACB), a leading provider of high-quality, highly accurate sequencing platforms, today announced a newly published study in Nature Communications unveiling a powerful new method for ...

A multidisciplinary approach, early diagnosis, and comprehensive caregiver education are crucial in effectively managing ...

Roche to present latest scientific advancements from its neuromuscular portfolio at Muscular Dystrophy Association 2025 conference: Basel Tuesday, March 18, 2025, 11:00 Hrs [IST] ...

Spinal muscular atrophy type 1 is a genetic disorder that typically appears within the first six months of life, causing ...

SMA is caused by reduced levels of survival motor neuron (SMN) protein due to deletions or mutations of the SMN1 gene. A nearly identical gene, SMN2, produces low levels of functional SMN protein.

In its most severe form, as in the case of this child, individuals lack both copies of the SMN1 gene, and have only one or two copies of a neighbouring gene, SMN2, that partially compensates for ...

Bio-Techne's Asuragen brand inks a partnership with Oxford Nanopore Technologies to launch research-use-only AmplideX Nanopore Carrier Plus Kit.

A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens  via Unsplash During an amniocentesis test, a long, thin ...