Muscular Dystrophies

DMD Research: Exon Skipping

On Jan. 21, AVI BioPharma of Portland, Ore., announced its experimental compound AVI4658 for the treatment of Duchenne muscular dystrophy (DMD) yielded promising results in a phase 1 clinical trial in the United Kingdom.

DMD Research: Exon Skipping Goes Systemic

AVI BioPharma of Portland, Ore., has started the systemic (through the blood) delivery phase of its clinical trial of AVI4658 in Duchenne muscular dystrophy (DMD). The trial is being conducted in the United Kingdom.

George Karpati: "He Was a Giant"

Neurologist and neuroscientist George Karpati, a longtime MDA research grantee at the Montreal Neurological Institute, passed away suddenly on Feb. 6, 2009. He was 74.

Karpati was one of the world's leading authorities on the diagnosis and treatment of muscular dystrophy. He held the I.W. Killam Chair and was a professor of neurology and neurosurgery at McGill University in Montreal (the Montreal Neurological Institute is part of McGill).

UK Trial: 'Robust Response' to Exon-Skipping Compound Seen

On Jan. 21, AVI BioPharma of Portland, Ore., announced its experimental compound AVI4658 for the treatment of Duchenne muscular dystrophy (DMD) yielded promising results in a phase 1 clinical trial in the United Kingdom.

EDMD Research: Lamin Defects

Mutations in the lamin A/C gene on chromosome 1 and the emerin gene on the X chromosome both can cause Emery-Dreifuss muscular dystrophy (EDMD), but the precise mechanisms by which they do so are still being identified.

Now, a multinational team has found that, in mice with an EDMD-like disease, lamin protein defects interfere with the way cell nuclei normally localize in skeletal-muscle fibers at the point where each fiber receives signals from a nerve cell.

DMD/BMD Reseach: Minidystrophin Gene

A promising “minidystrophin gene” that restores normal muscle force to skeletal and diaphragm muscles in mice with a disease resembling Duchenne muscular dystrophy (DMD) seems to be only partially effective at restoring strength and function to heart muscles.

DMD Research: Another Dystrophin Stand-In?

Delivering the gene for the missing dystrophin protein to the muscles of children and young men with Duchenne muscular dystrophy (DMD) is one of several therapeutic avenues under intense investigation in this disease. However, the strategy has technical drawbacks, and some experts worry that introduction of a previously absent protein could provoke a dangerous immune response.

CMD Research: Promising Leads

Recently published findings from two independent groups have suggested possible treatment pathways for the merosin-deficient and integrin-deficient forms of congenital muscular dystrophy (CMD).

Doxycycline fights cell death and lessens disease severity in merosin-deficient mice

Flying High ... From a Wheelchair

Flying automobiles … flying lawnmowers … flying doghouses … where’s this madness going to end?

If Chris “Lucky” Carnes has his druthers, the sky’s the limit.

For the past four years, the 33-year-old from Chase City, Va., has been busy practically every weekend with the rapidly growing hobby/sport of model aviation.

MMD Research: Drug Development?

The identification of small molecules that can block the genetic defect that causes type 1 myotonic dystrophy (MMD1, or DM1) may be the first step toward developing a new drug treatment for the disease, say researchers at the University of Rochester (N.Y.) Medical Center (URMC).

The abnormality that underlies MMD1 is a stretch of genetic material derived from DNA on chromosome 19 that contains more than the usual number of a repeating chemical sequence known as a CUG (cytosine, uracil, guanine) triplet repeat.

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