Quest Magazine

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.

Recreational Opportunities for Wheelchair Users

Like many people who served in the U.S. Marine Corps, Ray Brown, 59, sees no difference between then and now. “I’m still a Marine,” he attests firmly.

That dogged determination no doubt has been largely instrumental in the success of Wheelin’ Team 457. It’s an organization Brown formed in 2003 to provide recreational opportunities for people with disabilities who use wheelchairs.

SMBA Research: Can This Cell Be Saved?

A defense mechanism called “autophagy” that neurons (nerve cells) use to protect themselves from dangerous misfolded proteins may hold the key to developing treatments for spinal-bulbar muscular atrophy (SBMA, or Kennedy disease) and perhaps similar neurodegenerative diseases, new research shows.

Speeding the Course of Clinical Trials

Trial Results in DMD Heralded as 'Proof of Concept'

The Dec. 27 issue of the prestigious New England Journal of Medicine featured encouraging results of a phase 1 clinical trial of an exon skipping compound in four boys with Duchenne muscular dystrophy (DMD). Preliminary findings from this trial, conducted in the Netherlands, were announced in May (see Progress Reports).

Origin of Viral Protein In ALS Elusive

A study in the May 29 issue of Neurology is the third to find that a viral protein known as reverse transcriptase is more frequently found in the blood of people with amyotrophic lateral sclerosis (ALS) than in those who don't have the disease.

Reverse transcriptase is an enzyme that retroviruses (a viral family that includes HIV) use to replicate themselves.

FDA OKs Lifesaving Treatment for Pompe Disease

TUCSON, Ariz., April 28, 2006 — The Food and Drug Administration today announced approval of Myozyme, a new treatment for patients with Pompe disease, a rare genetic disorder also known as acid maltase enzyme deficiency.

First US Trial of DMD Gene Therapy Under Way

The first U.S. human gene therapy trial directed at Duchenne muscular dystrophy (DMD) was launched yesterday at Columbus (Ohio) Children's Hospital, the Muscular Dystrophy Association (MDA), Children’s Hospital, and Asklepios Biopharmaceutical Inc. (AskBio) announced today. 

Neurologist Jerry Mendell administered an injection of AskBio’s Biostrophin, which contains a functional gene for the muscle protein dystrophin, into the biceps of Andrew Kilbarger, 8, of Lancaster, Ohio.

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