Quest Magazine

Legislative Briefs: International Rare Disease Day and More

International Rare Disease Day 2011

Monday, February 28, 2011, marks the fourth annual International Rare Disease Day, in which hundreds of patient organizations from more than 40 countries conduct awareness-raising activities around the slogan “Rare but Equal.” The worldwide event is an effort to draw attention to rare diseases and the millions of people who are affected by them — including all those covered by the MDA umbrella. 

Research Briefs: CMS, DMD, LGMD, Pompe, Stem Cells

Congenital myasthenic syndromes

A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).

Unconventional Pianist with CMT Hopes to Raise a Million

Amble playing a "techno music" piece that he composed when he was 9.

Research Briefs: CMT, CMS, DMD/BMD, FA, Pompe disease, SBMA

UCLA Researcher Receives MDA Grant to Develop DMD Drug

A new MDA translational research grant for $476,465 over three years will allow Carmen Bertoni at the University of California, Los Angeles (UCLA) to develop RTC13, an experimental compound designed to treat Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) caused by a specific type of flaw in the gene for the muscle protein dystrophin.

Eight New Grants Bolster MDA's Battle Against ALS

MDA has awarded eight new grants totaling nearly $2.5 million to fund research projects focused on uncovering the causes of, and developing therapies for, ALS. The effective start date for the grants was Feb. 1, 2011.

MDA Awards $13.5 Million in Research Grants

The Muscular Dystrophy Association has awarded 44 grants totaling $13.5 million to support research efforts aimed at advancing understanding of disease processes and uncovering new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association’s program.

The new grants were reviewed by MDA’s Scientific and Medical Advisory Committees, and approved by MDA’s Board of Directors at its December meeting.

Isis Hosts Webinar for SOD1-Rx Trial

Isis Pharmaceuticals hosted an interactive webinar Wednesday, March 2, 2011, at 12 noon Eastern Standard Time, to help prospective participants understand its MDA-supported, phase 1 study of ISIS-SOD1-Rx for people with familial amyotrophic lateral sclerosis (ALS) due to mutations in the SOD1 gene.

For those unable to participate during the live webinar, a replay will be available for a limited time on the Isis website.

Doctors Talk Heart to Heart

Muscle Disease Quality-of-Life Study Seeks Participants

Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.

The study also is recruiting 30 adults with no neuromuscular disease.

Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).

Pages