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Scientists say that they have found a more thorough way to detect gene flaws that promote colon cancer and that the technique should improve testing for genetic susceptibility to other diseases as well.
Most of these gene flaws — there are scores of them, and they have names like BRAF V600E — are relative newcomers to medical terminology, as are most of the anticancer drugs, still in early testing, that are aimed at them.
Moreover, while the patient base for Duchenne may be too small to spark a billion-dollar drug, the PTC chemical could work against similar underlying gene flaws in other disorders such as cystic fibrosis, hemophilia and spinal muscular atrophy.
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Scientists have identified a gene flaw linked to disc problems that are a common cause of lower back pain.
But if the RETGC gene is flawed, cyclic GMP levels never reach those necessary to trigger the reactions that take place during the recovery stage.
Researchers have long known that a single flawed gene causes sickle cell disease, in which red blood cells take on a sicklelike shape that inefficiently delivers oxygen.
As we have previously shown, the technique to validate a promoter prediction technique with gene annotation is flawed (Abeel et al., 2008), especially since it only takes into account the 5′ TSS and will label any other recognized TSS as a false prediction.
Gene patents, whatever their flaws, had the beneficial effect of consolidating commercial exploitation of specific genes under the management of patent monopoly holders.
But within days of the paper's appearance, critics charged that the authors hadn't accounted for intrinsic flaws in gene microarrays they used to find those variants, among other problems.
To date, researchers have identified two breast cancer susceptibility genes, called BRCA1 and BRCA2, but flaws in these genes probably account for no more than one-third of all hereditary breast cancers.
"When I was having a particularly tough time, I felt it could be evidence that our genes were somehow flawed.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com