Quest Magazine

Mutations in FUS Gene are a Cause of Familial ALS

Two independent research teams, one based in the United States and Canada and the other in the United Kingdom and Australia, have identified mutations in a gene called FUS on chromosome 16 as a cause of familial amyotrophic lateral sclerosis (ALS).

Both groups announced their findings in the Feb. 27, 2009, issue of the journal Science.

Stem Cell Research: Major Step

The U.S. Food and Drug Administration (FDA) has said yes to a small safety trial of nervous-system stem cells in people with recently sustained injuries to the middle (thoracic) part of the spinal cord, the biopharmaceutical company Geron Corporation of Menlo Park, Calif., announced Jan. 23, 2009.

Dogs with ALS

Researchers at several institutions in the United States and Sweden have found that a mutation in the gene for superoxide dismutase 1 (SOD1), known to cause ALS (amyotrophic lateral sclerosis) in 1 percent to 3 percent of human cases, also can cause an ALS-like disease in dogs.

These dogs are the first spontaneously occurring animal model of ALS discovered, the researchers say in their paper, published online Feb. 2 in Proceedings of the National Academy of Sciences.

Stem Cell Research: Major Step

The U.S. Food and Drug Administration (FDA) has said yes to a small safety trial of nervous-system stem cells in people with recently sustained injuries to the middle (thoracic) part of the spinal cord, the biopharmaceutical company Geron Corporation of Menlo Park, Calif., announced Jan. 23, 2009.

Tom Mumper: Wood Turner with CMT

Tom Mumper
Tom Mumper, 80, revels in shaping wood into “functional art

Twenty years and 4,600 artfully crafted pieces later, Tom Mumper has no plans to slow down with his unique woodturning avocation.

Dogs with ALS

Researchers at several institutions in the United States and Sweden have found that a mutation in the gene for superoxide dismutase 1 (SOD1), known to cause ALS (amyotrophic lateral sclerosis) in 1 percent to 3 percent of human cases, also can cause an ALS-like disease in dogs.

These dogs are the first spontaneously occurring animal model of ALS discovered, the researchers say in their paper, published online Feb. 2 in Proceedings of the National Academy of Sciences.

CMT Research Network

In January, MDA began funding development of the North American CMT Network to provide an infrastructure for clinical research in Charcot-Marie-Tooth disease (CMT) and aid researchers in locating potential participants for clinical studies.

An early goal of the network is to establish scoring systems for functional evaluations in children with CMT.

Valproic Acid in SMA

Preliminary results in the phase 2 study of valproic acid and carnitine in children with types 2 and 3 spinal muscular atrophy (SMA) suggest the treatment may have improved function in children younger than age 3 who were not walking at study entry. However, there was no benefit of the drug treatment when a larger group that included children ages 2 to 8 who were not walking was compared with a placebo (inactive substance) group.

George Karpati: "He Was a Giant"

Neurologist and neuroscientist George Karpati, a longtime MDA research grantee at the Montreal Neurological Institute, passed away suddenly on Feb. 6, 2009. He was 74.

Karpati was one of the world's leading authorities on the diagnosis and treatment of muscular dystrophy. He held the I.W. Killam Chair and was a professor of neurology and neurosurgery at McGill University in Montreal (the Montreal Neurological Institute is part of McGill).

UK Trial: 'Robust Response' to Exon-Skipping Compound Seen

On Jan. 21, AVI BioPharma of Portland, Ore., announced its experimental compound AVI4658 for the treatment of Duchenne muscular dystrophy (DMD) yielded promising results in a phase 1 clinical trial in the United Kingdom.

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