Amyotrophic Lateral Sclerosis (ALS)

ALS — Christine Vande Velde, Ph.D.

MDA awarded a research grant totaling $358,242 over three years to Christine Vande Velde, research assistant professor in the department of medicine at the University of Montreal Hospital Research Center in Montreal, Quebec (Canada). The funds will help support Vande Velde’s study of the role of TDP43 and the stress granule mechanism in amyotrophic lateral sclerosis (ALS).

Another Gene Linked to Familial ALS

A genetic mutation in the gene for a protein called profilin 1 (PFN1) has been identified as a cause of familial amyotrophic lateral sclerosis (ALS), an MDA-supported team of researchers has reported.

Only about 5 percent of ALS is familial (where there is a history of ALS in more than one family member) with the other 95 percent occurring sporadically (without any family history of the disease).

ALS — Alex Parker, Ph.D.

MDA awarded a research grant totaling $231,300 over three years to Alex Parker, assistant professor in the department of pathology and cellular biology at the University of Montreal Hospital Research Center in Montreal, Quebec (Canada). The funds will help support Parker's study of cellular stress response in neurodegeneration associated with amyotrophic lateral sclerosis (ALS).

CMT/FA — Jeffrey Milbrandt, M.D., Ph.D.

MDA awarded a research grant totaling $357,366 over three years to Jeffrey Milbrandt, professor and head of the department of genetics, and professor of pathology & immunology, medicine and neurology at Washington University School of Medicine in St. Louis.

Disruption of ‘Transporter’ Protein May Underlie Neurodegeneration

Disruption of a “transporter” protein called MCT1 (also SL16A1) leads to the degeneration of muscle-controlling nerve cells (motor neurons) in animal and cell culture models of amyotrophic lateral sclerosis (ALS), an MDA-supported team of researchers has reported.

In addition, the team found that MCT1 activity is reduced in people with ALS and in mouse models of the disease. 

Study Finds ‘Less Clear’ Distinction Between Sporadic and Familial ALS

In a more than 20-year study of people with amyotrophic lateral sclerosis (ALS), a research team found that 11 percent of people with a diagnosis of sporadic ALS had mutations in genes associated with the familial form of the disease.

SBMA — Albert La Spada

MDA awarded Albert La Spada, chief of the division of genetics in the department of pediatrics at the University of California, San Diego, $330,000 to study what causes nerve cells called motor neurons to die in spinal-bulbar muscular atrophy (SBMA) and other neurodegenerative diseases such as ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease) and spinal muscular atrophy (SMA).

ALS — Daniel Offen

Daniel Offen, head of the neurology laboratory at Tel-Aviv University, Israel, received an MDA grant totaling $359,700 for research into a combined cell and gene therapy approach for ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease).

ALS — Daniela Zarnescu

MDA awarded $375,000 to Daniela Zarnescu, assistant professor in neuroscience at the University of Arizona in Tucson, Ariz., to conduct gene and drug discovery research in a drosophila fruit fly model that carries a mutation in the TDP43 gene associated with a genetic form of human ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease).

ALS — Dena Jacob

Research scientist Dena Jacob at Thomas Jefferson University in Philadelphia, received an MDA grant totaling $180,000 for research into decreasing cells' resistance to therapeutic medications in ALS (amyotrophic lateral sclerosis, or Lou Gehrig’s disease).

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