Not exact matches
Researchers located a novel
gene mutation causing cleft lip and cleft palate
defects, which slows the turnover of hyaluronan, an
important component of the hard palate.
«This is an
important finding that will help future researchers, and eventually physicians, to maximize the effectiveness of
gene therapy for curtailing sensory deficits associated with USH3 syndrome and, perhaps, in other disorders linked to
defects in single
genes,» said Alagramam.
Although mutations had been identified in other
genes important for the recycling of bile acids, this is the first report in humans of disease - associated
defects in this
gene, called Organic Solute Transporter - beta (SLC51B).
This approach may also be applicable to a number of rare genetic diseases caused by splicing
defects, including ataxia telangiectasia, congenital disorder of glycosylation, and Niemann - Pick disease type C. Although the three DMD studies referenced here represent a great step forward for CRISPR
gene therapy, it's
important to realize that DMD is a simpler case than other genetic diseases we'd like to treat with CRISPR.
It's
important for artery and brain health, and when elevated, it may be due to a genetic
defect in the MTHFR
gene, which is also easily measured.
Another very
important point to keep in mind is that when a purebred carrying a genetic
defect is crossed with another breed or mixed breed, the «bad»
genes do NOT «go away» even though they may not be expressed in the offspring.
While some
genes important to cancer development have clear alterations in their genetic codes to explain changes in their expression in cells, some do not exhibit such defined
defects.