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Targeting a disease that affects about 20,000 Americans, The Jackson Laboratory in Bar Harbor has received a five-year, $3,322,009 federal grant to research new mouse models that may shed light on amyotrophic lateral sclerosis, also known as ALS and Lou Gehrig’s disease.
ALS usually strikes people from 40 to 70 years old, who have a typical life expectancy of two to five years after diagnosis, according to the ALS Association.
Playwright Sam Shepherd, 73, recently died of complications from the disease. ALS became more widely known because of the Ice Bucket Challenge three years ago.
The disease causes motor neurons, or nerves in the brain and spinal cord that communicate with muscles throughout the body, to degenerate progressively and eventually die. As a result, the brain loses its ability to control muscle movement, gradually affecting a person’s ability to move, speak, eat and breathe.
JAX Associate Professor Greg Cox will use the money to further study mutations, or genetic variations, in two types of mice showing ALS symptoms. The mutations appear to affect accurate production of proteins in motor neurons, and correspond to genetic variants found in some ALS patients. Studying the mice may help better understand ALS in humans.
Cox is collaborating with Claudio Joazeiro of The Scripps Research Institute in La Jolla, Calif., who had earlier identified a mouse with nervous system degeneration caused by a mutation in a related gene.
“We will be investigating the link between the mutations in our mouse models to human ALS or other neuromuscular diseases,” Cox said in a printed statement.
The grant is from the National Institute of Neurological Disorders and Stroke of the U.S. National Institutes of Health.
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