#gene replacement

[eideard]

Brits allow three genetic parents

Brits allow three genetic parents

After spending several years interviewing scientists and holding public forums to debate ethics and air concerns, the U.K.’s lower house of Parliament this week voted to allow babies to be born with three genetic parents.

While some call it a perversion, the procedure has nothing at all to do with kinky sex. Rather, it’s a highly advanced single-cell micro-surgery, replete with cutting-edge…

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[mburatov]

Gene Editing Does not Increase Mutation Rate in Stem Cells

Gene Editing Does not Increase Mutation Rate in Stem Cells

Substituting one gene for another in cultured cells was once the stuff of science fiction, but with the ability to grow cells from our own bodies in culture and even convert them into embryonic-like stem cells, gene replacement has moved from the realms of science fiction to reality. However, the introduction of any all new technology comes with risks and trade-offs. In the case of gene…

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[advmedical-blog]

Gene Replacement Treats Copper Deficiency Disorder

Gene therapy plus an injection of copper dramatically improved survival in mice with a condition that mimics the often fatal childhood disorder Menkes disease, according to a study by researchers at the National Institutes of Health (Molecular Therapy, online, Aug. 30, 2011).

Menkes disease results from a poorly functioning copy of the gene ATP7A. Ordinarily, the gene helps the body process the trace metal copper, but it malfunctions in Menkes disease. As a result, copper is not available for proper development. Although the disorder affects the entire body, it is most pronounced in the brain, which requires relatively larger amounts of copper during development than other organs and tissues. Copper is used in the formation of red blood cells and for keeping nervous system tissue, bones and the immune system healthy.

The syndrome affects one out of 50,000 to 100,000 newborns each year, the vast majority of them boys. The disorder varies in severity, depending on the degree to which the gene is disabled. Symptoms appear during infancy. Two to three months of normal development is followed by a period of severe developmental delay and a loss of developmental skills.

Other symptoms may include failure to thrive, deterioration of the nervous system, weak muscle tone and sagging facial features, seizures, body temperature that is lower than normal, weakened bones that can result in fractures, cheeks that are pudgy and rosy, and sparse hair that is kinky and coarse.

Current treatment consists of daily copper injections until a child is 3 years old. Therapists can help maximize developmental potential, and nutritionists can recommend the best diet.

In the new study researchers at the National Institute of Child Health and Human Development (NICHD) tested a treatment to add a normal copy of ATP7A to mice with a malfunctioning copy of the gene. Their results suggest that one day it might be possible to provide patients with a functioning ATP7A gene.

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Jonova Wilson is a Content Editor with Advanced Medical, a premier therapy staffing agency that specializes in the placement of physical therapists, occupational therapist and speech pathologists across the United States.