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First International Gene Screen for Typical ALS Is on Track

lecting the highly collaborative nature of the involved scientists and clinicians. The NINDS, for example, contributed the American samples in the study from among those that ALS clinicians at multiple medical centers nationwide sent to its new national repository.

The researchers anticipate important analysis and conclusion-drawing will occur in the next few months.

Finding genes that lead directly to ALS or that predispose people to the disease should provide new targets for therapies. In the decade since discovering the cause of some inherited forms of ALS-namely, a mutation producing a flawed version of the enzyme superoxide dismutase (SOD1)-a handful of other ALS-related mutations have been brought to light.

The genetic underpinnings of sporadic ALS, however, are far less certain. Sporadic ALS, affecting 90 percent of ALS patients, apparently arises spontaneously without family history. Even though the disease is clinically indistinguishable from the ALS that runs in families, different genes may be responsible for each. Something is held in common, however, in the way that they both kill motor neurons. That’s why a gene change identified in one type can help understand the other.

Finding a scientifically significant tie between a gene or genes and ALS in this work will set the stage for even larger international investigations. “But even if we get no associations,” says Traynor, “that would suggest that sALS isn’t gene-based, that we should focus instead on the environment.”

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