Quest Magazine

Induced Stem Cells Require Cautious Approach

Stem cells have been much in the news lately, including for neuromuscular diseases.

PTC Remains Committed to Ataluren for Nonsense-Mutation DMD/BMD

Update (July 25, 2012): This story was updated to reflect the fact that PTC has announced its intention to begin an open-label trial of ataluren in DMD/BMD for former ataluren trial participants in Europe, Israel and Australia.

ALS Research Briefs: FUS-TDP43, SOD1 Mutation and Webinars

FUS and TDP43 work together in fruit flies

In a fruit fly research model of inherited ALS, human FUS and TDP43 proteins work together on some processes necessary for the long-term survival of muscle-controlling nerve cells (motor neurons), reports a research team at Columbia University Medical Center in New York.

Familial, Sporadic ALS Linked via Astrocytes and SOD1

Astrocytes— cells that normally support and protect nerve cells — have been found to cause motor neuron degeneration in newly created human cellular models of both inherited and noninherited ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease). Scientists tied the astrocytes' effects, in both forms of the disease, to the superoxide dismutase 1 (SOD1) protein.

Trainer with SMA Turns ‘Underdogs’ into Winners

From the moment Linzey Zoccola received her first service dog at age 16, she knew what she wanted to do with her life.

Zoccola has type 2 spinal muscular atrophy and has used a power chair since the age of 4. She has always been strongly independent, but having a service dog was a revelation.

Here was a creature that not only brought her joy and companionship, but also helped her perform tasks at home and school, achieve greater independence, and even smoothed her path socially.

Sigma R1 Gene Linked to Juvenile ALS

A mutation in the gene for a protein called sigma intracellular receptor 1 (sigma R1) has been identified as a cause of familial juvenile ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease), a team of researchers from Riyadh, Saudi Arabia, has reported.

Ubiquilin 2 Abnormalities Connected to ALS

 A group of researchers led by Teepu Siddique at Northwestern University Feinberg School of Medicine in Chicago has identified abnormalities in the ubiquilin 2 gene and protein as important contributors to several forms of amyotrophic lateral sclerosis (ALS).

MDA Awards More Than $2.5 Million in Grants to Stop ALS

MDA has awarded nine grants totaling more than $2.5 million to fund research projects focused on uncovering the causes of, and developing therapies for, amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease).

The new grants went to investigators at labs in the United States and Canada.

The newly funded projects include research into:

MDA Awards $13.7 Million in Research Grants

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover 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 recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

Global CMD1C/LGMD2I Registry Opens

A new registry has been launched for people with conditions caused by mutations in the gene for fukutin-related protein (FKRP). This includes people with the type 2I form of limb-girdle muscular dystrophy (LGMD) and the type 1C form of congenital muscular dystrophy (CMD) and, in rare instances, the congenital muscular dystrophies muscle-eye-brain disease and Walker-Warburg syndrome.