Quest Magazine

ALS Research Briefs: Ataxin 2 Gene

In a 2010 study, scientists working in the United States and Germany found that small polyglutamine ("polyQ")expansions of DNA in the ataxin 2gene significantly increase the risk for developing ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease).

Expansions of DNA coding for glutamine in the ataxin 2 gene lead to production of expanded ataxin 2 proteins, containing extra strings of glutamine amino acid molecules.

Stem Cell Model Creates 'ALS in a Dish'

A human cellular model of ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease) has been created using cells taken from people with a subtype of the disease called ALS8.

This so-called “disease in a dish” research model already is enabling researchers to learn more about the role of a protein called VAPB in the ALS disease process.

Researchers Studying DMD-Affected Families

Belen Pappa, a graduate student in genetic counseling, is seeking participants for a survey-based study about psychosocial functioning in families in which a child has Duchenne muscular dystrophy (DMD).

Safety Stem Cell Trial in ALS Set to Advance

Maryland biotherapeutics company Neuralstem has announced favorable results from the first part of a phase 1 trial to test the safety of its experimental spinal cord stem cell treatment in ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease).

Research Briefs: Stem Cells

Stem cells are a hot topic these days in medicine, science and law, although the term has multiple meanings and it's easy to get confused.

In short, stem cells are cells at an early stage of development from which specialized cells, such as muscle or nerve cells, can develop (in other words, from which these specialized cells "stem").

Different kinds of stem cells are referred to as:

Research Briefs: The DMD/BMD-Affected Heart

In both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), deterioration of the heart muscle, a condition known as cardiomyopathy, is a major cause of disability and death.

Government Health Insurance Access Made Easier

In hopes of attracting more enrollees, the U.S. government is lowering premiums and easing eligibility requirements for its Pre-Existing Condition Insurance Plan (PCIP).

Researchers Exploring Disability Perceptions

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

MDA Awards Grant to Test MTM Gene Transfer in Dogs

MDA’s translational research program has announced it is funding research into a potential treatment for the inherited muscle disorder X-linked myotubular myopathy (MTM).

The grant of $369,365 grant to Wake Forest University professor Martin Childers will fund a three-year study of myotubularin gene transfer in mice and dogs that have an MTM-like disease.

Friends with SMA Inspire Scouts to Create Wheelchair Device

Ten-year-old Quinn Schnitzlein has been using a power chair since he was 3, so he’s a pretty good driver. But the boy from Marietta, Ga., who has spinal muscular atrophy (SMA), often bumped into things when he backed up.

One day last year, Quinn and some friends were at a fast-food restaurant. “We were at different tables,” Quinn says, “and when I’d try to turn around to talk to them, I kept hitting things.”

Pages