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First single DNA base pair replacement proven successful

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The first technique that is sophisticated enough to replace a single DNA base pair of a gene that causes disease or a birth defect was presented by Dr. Bruce Conklin and Dr. Yuichiro Miyaoka of Gladstone Institutes in the Feb. 9, 2014, issue of the journal Nature Methods.

The new technique is capable of finding a genetic defect that may only occur in one percent of the entire gene sequence and can also replace the defective gene with an induced pluripotent stem cell constructed from the patient’s own skin that has been freed of the genetic defect. The defective part of the gene is replaced by a new base pair that has no defects and produces no genetic scarring that was previously a major hindrance to curing disease with stem cell replacements. Rejection is not an issue because the stem cell comes from the patient.

While still in its infancy, this new method promises a cure for genetic disorders including diabetes, heart diseases, and mental conditions. This is a cure not a treatment.

The evidence thus far shows no detrimental effects from selective removal of a single part of a gene. Previously, unanticipated side effects had occurred when parts of a gene were replaced but no such side effects can occur in the new method due to the high level of selectivity involved.

This research bodes for a cure for the majority of diseases and birth defects that plague humans.

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