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