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.
Ibdah and his colleagues identified the genetic defect
in 24 infants or toddlers who had come in with liver, heart or muscular abnormalities suggestive of defects in the body's use of fatty acids -- which ordinarily are used to supply energy and for other essential functions.
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.
Participants at the meeting greeted the reports with cautious optimism, and leaders said they were now planning to test the drug, which was developed by Genentech of South San Francisco, among patients with less advanced forms of the breast cancer and among the 20 percent of ovarian cancer cases involving the same genetic defect
Washington, July 26 ( ANI ): A new gene therapy approach can reverse hearing loss caused by a genetic defect
in a mouse model of congenital deafness, a new study has revealed.
The collagen fibers in skin samples of people with a genetic defect
that causes extreme homocysteine overload aren't tightly linked, van Meurs notes.
Chronic myeloid leukemia (CML) is a cancer of the blood cells caused in the majority of cases by an acquired genetic defect
called the bcr-abl mutation.
The disease is caused by a genetic defect
, passed from parent to child.
Correcting the genetic defect
through gene therapy, drugs, or other means is much further off but is now a possibility, say these researchers.
The impairment sometimes is the result of a genetic defect
or a brain injury.
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.
The boy will begin the first step today of a special treatment to correct a genetic defect
in his immune system aimed at prolonging his life.
DiMauro and his colleagues still haven't pinpointed the genetic defect
that causes the CoQ10 deficiency in familial cerebellar ataxia, but the disease does appear to be hereditary.
The genetic defect
keeps the body from properly dealing with "errant" immune cells that it normally eliminates by a process called immunological tolerance.