Thermo Fisher Scientific introduced a new test it says will allow reproductive health researchers to efficiently screen 420 genes for markers of several disorders, including spinal muscular atrophy (SMA). The new approach combines several stand-alone tests into a single assay. There are several different tests available for diagnosing…
Researchers have developed a platform called SMArtCARE that allows prospective monitoring of all spinal muscular atrophy patients regardless of their current treatment. The technology has the potential to shed new light on the disease’s natural history and medication’s influence. A description of the project was published in…
Measuring the levels of proteins known as neurofilaments, and tau in the cerebrospinal fluid of infantile-onset spinal muscular atrophy (SMA) patients can be used as biomarkers to monitor the effectiveness of Spinraza (nusinersen), a case report shows. The case study, “Neurofilaments and tau in CSF in an infant with…
A new gene of unknown function, called FAM135B, is expressed at lower levels in a cellular model of spinal and bulbar muscular atrophy (SBMA) and is thought to play a role in supporting spinal motor neurons’ growth and survival, a study found. The study, “Phenotypic and molecular features underlying neurodegeneration of…
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