From The ALS Association
July 23, 2003

Three independent groups of researchers have identified families with
linkage to chromosome 16, providing strong evidence that another gene
associated with familial ALS is close to being identified. There are four
families linked to chromosome 16. The affected family members exhibit both
upper and lower motor neuron involvement ? classical ALS. In addition, one
of the studies identified linkage in another family to chromosome 20.

These independent studies provide a powerful foundation from which to move
in on the next ALS gene. This study has been greatly helped by the
collaboration that has been of enormous value in consolidating the
finding, according to Dr. Jackie de Belleroche, Imperial College London.

These findings are reported in three articles published in the August 2003
edition of the American Journal of Human Genetics. Among the research
teams are currently ALSA-funded researchers Drs. Robert H. Brown,
Massachusetts General Hospital, Jackie de Belleroche, Imperial College
London, Charing Cross Hospital, and Christopher E. Shaw, King?s College in
London.

?The next step -- identification of the mutant gene -- will have an
enormous impact on ALS research, similar to that of the SOD1 discovery in
1993,? said Dr. Lucie Bruijn, science director and vice president, The ALS
Association. ?Because there is some overlap in linkage to a region on
chromosome 16 in the four families, the region of special interest is
reduced. That should expedite gene identification.?

Several aggressive approaches are already underway to identify the
specific gene. The ALS Association?s Gene Identification Project is an
accelerated approach. This $1.5 million collaborative study, launched last
summer, is focused on chromosome 16. That project led by Drs. Robert
Brown, Jackie de Belleroche, Guy Rouleau, Teepu Siddique, Eric Lander and
Pieter de Jong applies techniques used in the Human Genome Project. In
parallel, investigators are using the standard ?candidate gene? approach,
selecting genes in the area and sequencing them.

The ALS Association?s interest in and support of ALS genetics studies
dates back to the mid-1980s when other entities thought it too high risk.
The payoff came in 1991 and 1993 with the discoveries of linkage of
familial ALS to chromosome 21 and the mutant SOD1 gene respectively. Those
discoveries have provided invaluable information about both familial and
sporadic ALS, including models to study disease onset and progression as
well as to test potential therapies.