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September 23, 2003


New ALS Genetics Research Study Underway at Emory University; ALS Center at Emory Offers Expertise to Patients Across Southeast

ATLANTA - It is one of the most devastating disorders affecting the function of nerves and muscles in the body, according to the ALS Association. Amyotrophic lateral sclerosis (ALS) -- often referred to as Lou Gehrigís disease -- slowly and progressively robs patients of muscle control and movement throughout the body. In the latter stages of the disease, muscles often become totally paralyzed. While cognitive function usually remains untouched, patients with ALS watch as their body withers away while their thinking is still clear ≠ meaning these patients are aware of the disease that will eventually lead to their death.

Researchers are not sure what causes ALS or why some people are affected with more acute and more rapidly progressive symptoms than others. Now, through a collaboration with an Icelandic genomics company called deCODE genetics, Emory researchers are looking into the genetics of ALS for these answers and others.

"During a five year project, Emory and several other sites hope to collect blood samples from 500 ALS patients and their parents," says Jonathan D. Glass, MD, professor of neurology at Emory University School of Medicine and director of the ALS Center at Emory University. "Using thousands of DNA markers developed by deCODE, the research team will be able to identify genetic sequences throughout the human genome. With these markers, the researchers will develop a DNA Ďfingerprintí of ALS patients and their parents to determine whether inherited genes add susceptibility of developing ALS."

Only about 10 percent of ALS cases are inherited directly from the parents. Mutations in the superoxide dismutase (SOD1) or alsin (ALS2) gene in some unknown way cause the decline and death of motor neurons, which leads to muscle weakness and atrophy. Not all inherited cases, however, can be attributed to SOD1 or ALS2 mutations, and mutations in other as yet unidentified genes account for a large proportion of inherited ALS. Ninety percent of cases, however, are assumed to be "sporadic", meaning that the disease is not inherited. The Emory investigators are searching this sporadic population for genetic factors that may not directly cause ALS, but increase the risk of ALS in people carrying these genes.

Emory formed a strategic alliance with deCODE genetics in August 2002. The company, based in Reykjavik, Iceland, uses its uniquely comprehensive population data to uncover the genetic factors underlying common diseases. The study of genealogy is a national Icelandic pastime, and family lineages are well characterized and recorded. Because of this precise charting, deCODE has created an extensive database that anonymously cross-references genealogical information about the Icelandic population with genetic and disease data from volunteer patients and their relatives in more than 50 disease projects, including stroke, diabetes, breast and prostate cancers, and Parkinsonís disease.

Armed with these important genetic clues from the Icelandic population, Emory scientists are conducting their own research studies within Emoryís diverse group of patients to uncover the full range of mutations or versions of these genes that might predispose individuals to disease. Although there are no ALS patients in Iceland to cross-reference with samples being collected by Emory, the Emory researchers will use deCODEís screening tools and methods during the five-year project. They believe working towards identifying the genetic sequences of the disease, with the help of deCODE, will prove to be beneficial.

At the ALS Center at Emory University, Dr. Glass and his colleagues care for a patient base of about 100 to 130 people from all over the Southeast. Supported by the Muscular Dystrophy Association (MDA) and the ALS Association, the ALS Center at Emory University is the only one of its kind in Georgia. Respiratory and physical therapists, nutritionists and social workers care for the patients during their visits to the center. Since there is no cure for ALS, Dr. Glass treats patients for their symptoms, while continuing to research for causes and potential treatments for their disease.

"The research in our laboratory focuses on finding pieces of ALS that fit our other models of neurodegenerative disease and using common mechanisms to treat them," says Dr. Glass. "We are looking at ways to delay the death of motor neurons and prevent axon degeneration. For the past 15 years, we have been studying peripheral neuropathy and the death of motor and sensory axons. Peripheral neuropathy is a neurological disorder that causes weakness, numbness, burning, tingling and pain in the arms, hands, legs and/or feet. We have good models of various agents that can protect against peripheral neuropathy. Our mission is to look at these same agents to see if they can prevent axon degeneration in motor neuron disease."

ALS affects the upper and lower motor neurons -- causing weakness, stiffness and twitching in the limbs and trunk. The nerve cells in the brain and the spinal cord are also under attack. The motor neurons in ALS progressively deteriorate, waste away and then die, causing the brain to no longer initiate and control muscle movement. As the disease advances to the latter stages, patients can become totally paralyzed. Most ALS patients die when the muscles that help them breathe are paralyzed. ALS is usually fatal within five years after diagnosis. Fifty percent of patients die within three years of onset.

Dr. Glass also treats patients with a similar motor neuron disease called primary lateral sclerosis (PLS). PLS progresses much slower than ALS and is typically not fatal. In PLS, only the upper motor neurons are affected -- meaning that patients experience progressive muscle stiffness and slowness in their voluntary muscles, but they donít develop degeneration of spinal motor neurons, muscle wasting or muscle contractions, as in ALS. Because of its slow course, patients with PLS may live up to 20 years after diagnosis. As many as 30,000 Americans have ALS. The population of PLS is much less -- approximately 400.

As for the genetics study at Emory, ALS patients and their parents are now being recruited. Since most ALS patients donít develop the disorder until they are in their 40s to 70s, the task of finding 500 patients with living parents will be daunting. For more information about this ALS genetic research study, please call 888-413-9315.

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