One approach is to deliver a working copy of the entire gene within a virus, but this method can
disrupt normal genes.
Many patients suffering from Rare Disease harbour genomic variants (sequence variants or copy number variants) that by
disrupting normal gene expression lead to disease.
Not exact matches
The L1
genes can jump to new positions,
disrupting the
normal activities of cells if they land in the middle of important
genes.
Myc is a cancer - causing
gene responsible for
disrupting the
normal 24 - hour internal rhythm and metabolic pathways in cancer cells, found a team led by researchers from the Perelman School of Medicine at the University of Pennsylvania.
The molecules are critical to
normal development: When the
genes for certain of these molecules are experimentally erased, the eggs made by female mice are invariably defective, and the errors fatally
disrupt the
normal choreography of egg maturation.
Scientists believe inbreeding
disrupts the complex mix of
genes that is needed to produce «
normal» sperm.
Simon's strategy is to compare the effects of a drug on a
normal strain of yeast and a strain with a mutation in one of the many
genes that affect
normal cell division - a property that is
disrupted in cancerous cells.
The effects of
disrupting the «silent»
genes revealed in these studies may be masked by the activity of related
genes, or because their mutations produce defects that are not readily apparent in casual observation under
normal laboratory conditions.
The researchers not only had to figure out how SLC16A11 performed in
normal circumstances, but also then determine how mutations in the
gene disrupted that function.
«By mapping the breakpoints, we were able to identify
genes that were
disrupted in patients with birth defects, which suggests that these
genes play a key role in
normal brain development,» she said.
The alternate ky variant of the CBD103
gene disrupts the
normal function of the CBD103
gene allowing for agouti (A locus)
gene expression and the inhibition of black pigment synthesis.