who had one or two copies of the SMN2 backup gene, or two copies of the SMN2 backup gene, respectively.

PacBio (NASDAQ: PACB) today announced financial results for the quarter ended March 31, 2025. First quarter results: Q1 2025Q1 2024Revenue$37.2 million$38.8 ...

The antisense oligonucleotide works by modulating alternative splicing of the SMN2 exon which is mutated in the disease. This is however "laborious, slow and costly", according to the biopharma.

Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard ...

840C > T conversion and variable numbers of SMN2 copies. Infants with clinical symptoms and genetic confirmation of SMA comprise class 2, and infants with SMA symptoms but no genetic evidence comprise ...

Spinraza, which is marketed by Biogen, increases SMN levels by boosting its production from the SMN2 gene, a backup gene that produces 10%-15% of working SMN. Clinical trials show Spinraza ...

Several highly efficient therapeutic options are currently approved for SMA. The therapies are essentially based on two mechanisms: correction of endogenous SMN2 splicing to increase the level of the ...

MENLO PARK, Calif., May 08, 2025 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB) today announced financial results for the quarter ended March 31, 2025. First quarter results: Q1 2025Q1 2024Revenue$37.2 ...

Pacific Biosciences of California, Inc. PACB, popularly known as PacBio, delivered an adjusted loss per share of 15 cents in first-quarter 2025, narrower than the year-ago adjusted loss of 26 ...