By showing that the process of correcting a genetic defect
in patient-derived induced pluripotent cells is compatible with therapeutic use, we eliminated one barrier to gene therapy based on these cells," Howden said.
Now the focus of the research is switching to Harvard, where the genetic defects
will be inserted into healthy cells in an attempt to study their impact on carbohydrate metabolism.
Both types of myotonic dystrophy are inherited disorders that involve progressive muscle wasting and weakness, and both are caused by a type of genetic defect
known as a "RNA repeat expansion," a series of nucleotides repeated more times than normal in an individual's genetic code.
The Scripps Research Institute (TSRI) Associate Professor Matthew Disney said that this easy approach is an entirely new way to turn a genetic defect
off or on.
About half of the cases of congenital hearing loss are caused by genetic defects
Correcting the genetic defect
through gene therapy, drugs, or other means is much further off but is now a possibility, say these researchers.
Chinese researchers have for the first time identified a genetic defect
that causes atrial fibrillation, a heart condition that afflicts 5 percent of people over 65 years old.
The scientists then repaired the original mouse's genetic defect
in the stem cells and allowed the cells to mature until the team could isolate ones with blood-forming properties similar to bone marrow of adults.