spinal muscular atrophy

posted on January 1, 2011 - 4:50pm
Note: Always consult your doctor before undertaking a weight loss plan. I have always had problems with my weight. From the time I was 5, I’ve had round, chubby (some would say pinch-able) cheeks — and my cheeks weren’t my only round part. When I was in high school I started really battling with weight. I decided to diet my senior year and lost 12 pounds. I thought that was the toughest dieting I...

Researchers have identified a compound that helps cells produce more full-length SMN protein from the backup SMN2 gene.

posted on November 6, 2009 - 1:19pm
Scientists have identified a chemical cousin of the commonly used antibiotic tetracycline that has the potential to be refined and modified into a therapy for spinal muscular atrophy (SMA). PTK-SMA1 works by correcting an error in a cellular process called RNA splicing, and leads to increased production of a critical protein that is deficient in this disease.

 A variant in the SMN2 gene leads to more full-length SMN protein and better function

posted on September 29, 2009 - 10:46am
Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

Eye-control technology enables college student to communicate with the world

posted on November 1, 2008 - 10:32am
QUEST Vol. 15, No. 6
College student Stephanie Milas of Tipp City, Ohio, is determined to graduate with a business degree, and then go into the world and put it to good use. And to accomplish her goals, Milas relies on her eyes for much more than seeing.
posted on January 1, 2005 - 3:50pm
Morgan Fritz has a clear idea what her role will be as the 2005 MDA National Goodwill Ambassador. "To talk a lot," she says with a smile. But rest assured: The charming 6-year-old from St. Peters, Mo., knows exactly what to talk about when she and her family represent MDA and its clients nationwide this year. Morgan will attend fund-raisers, sponsor gatherings and other events to spread the word...