Genomic Vision and Quest Diagnostics have agreed to extend their collaboration focusing on the potential development of new biomarkers to improve genetic diagnosis of spinal muscular atrophy. The partners will accelerate the pace of their efforts to identify new biomarkers with the possibility of detecting SMA “2+0” carrier status, referring to carriers who have two survival motor neuron 1 gene copies on one chromosome and none on the other. The identification of this rare form of mutation would lead to improved sensitivity in SMA screening. This announcement follows previous research by the two companies that demonstrated evidence that this pattern could be detected by molecular combing, a user-friendly technique that allows DNA to be analyzed at the single molecule level. Although healthy parents of a child with SMA carry the SMN1 gene defect, they do not have any symptoms of the disease. A carrier with the 2+0 pattern cannot be distinguished from a noncarrier, and test results may not reliably identify this particular carrier status. Genomic Vision has pioneered a molecular combing system that could potentially detect this pattern and reliably identify carrier status. This test stretches and assembles millions of large DNA fragments in a single step. The resulting DNA is organized in discrete strands, allowing for analysis at the single molecule level. Under the new agreement, Quest will be solely responsible for developing, validating, and offering new lab tests.
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Many parents of children with neuromuscular disorders like SMA would like to see if yet-to-be-approved therapies could help them. But a lot them hesitate to let their children participate in clinical trials because they lack information on the trials’ requirements and risks, and they worry that…
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When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…
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In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…
