November
30, 2006
SCAN
OF ENTIRE HUMAN GENOME
FINDS UNEXPECTED NEW CLUES ON LOU
GEHRIG’S DISEASE
TUCSON, Ariz., Nov.
30, 2006 — A comprehensive
scan of the human genome has identified
more than 50 genetic abnormalities
in people with sporadic
amyotrophic lateral sclerosis (ALS,
or Lou Gehrig’s disease),
the Muscular Dystrophy Association
(MDA) and the Translational Genomics
Research Institute (TGEN) announced
today. The most common of these
abnormalities have never before
been shown to play a role in the
disease.
TGen researchers,
announcing the findings at an international
ALS conference in Japan, said the
identified differences implicate
genes likely to play a role in cell
function that controls nerve adhesion,
offering a major new avenue for
ALS research. TGen researchers identified
the differences by screening DNA
samples from over 1,200 people with
and 2,000 people without sporadic
ALS using state-of-the-art microarray
technology by Affymetrix of Santa
Clara, Calif.
“Our findings
indicate these genes produce a sort
of molecular glue that attaches
motor neurons to muscle. It appears
that in ALS the nerve is able to
peel off the muscle and, when that
happens repeatedly, the nerves die,”
said Dietrich Stephan, TGen director
of Neurogenomics and the study’s
principal investigator.
ALS is a progressive
neurological disorder that leads
to paralysis and death in three
to five years. It has baffled researchers
for nearly 140 years.
What is extraordinary
about this study is how quickly
this breakthrough occurred. A new
fast-track research funding approach
used by MDA and a new microarray
technology by Affymetrix that lets
researchers quickly scan people’s
genomes enabled the experiment to
be completed in just nine months.
“There is a
revolution going on in research,
and this study is a perfect example
of how things are changing,”
said Sharon Hesterlee, MDA vice
president of translational research.
“New technology is letting
us look at the genome at a level
of detail that was unthinkable just
a few years ago and, as a result,
costs are coming down, results are
coming much faster and we’re
seeing breakthroughs in diseases
that have baffled researchers for
decades.”
The Affymetrix 500K
Arrays identified the genetic differences
between the affected and unaffected
groups and rapidly produced a genetic
map of each individual.
“Just a couple
of years ago, this experiment would
not have been possible because there
simply wasn’t a technology
that enabled scientists to sift
through the three billion molecules
in the genome to find the genetic
abnormalities that cause disease,”
said Sean George, vice president
Academic Business Unit at Affymetrix.
“The 500K microarray used
on this experiment employs the same
kind of semi-conductor technology
that powers super computers.”
According to MDA and
TGen, the next steps center around
high-throughput screening for drugs
that act on the biochemical pathways
identified by the DNA screen.
The massive project
was funded by a $652,000 grant from
MDA’s Augie’s Quest,
a fast-track ALS research program,
in collaboration with TGen. Blood
donated for the study came from
the MDA/ALS Center at Methodist
Neurological Institute in Houston,
the Forbes Norris MDA/ALS Center
at California Pacific Medical Center
in San Francisco, the MDA/ALS Center
at the University of Pittsburgh,
and the Eleanor and Lou Gehrig MDA/ALS
Center at Columbia University in
New York, as well as a dozen other
collection sites throughout the
United States.
About MDA
MDA (www.mda.org)
is a voluntary health agency working
to defeat more than 40
neuromuscular diseases through
programs of worldwide research,
comprehensive services
and far-reaching professional and
public health education. It operates
235 neuromuscular disease clinics,
of which 37 are ALS-specific research
and care centers, across the United
States.
In 2006, MDA allocated
some $7 million to ALS research
and another $10 million for ALS
health care services. Since its
inception, the Association's expenditures
for ALS research and services have
exceeded $190 million.
About Augie's
Quest
Fitness pioneer Augie Nieto started
Augie's Quest (www.augiesquest.org)
in conjunction with MDA's ALS Division.
Nieto is co-founder and former president
of Life Fitness, and chairman of
Octane Fitness. He and his wife,
Lynne, serve as co-chairpersons
of MDA's ALS Division. Nieto received
a diagnosis of ALS in March 2005.
About the
TGen
TGen (www.tgen.org)
is a nonprofit 501(c)(3) organization
focused on developing earlier diagnostics
and smarter treatments. Translational
genomics research is a relatively
new field employing innovative advances
arising from the Human Genome Project
and applying them to the development
of diagnostics, prognostics and
therapies for cancer, neurological
disorders, diabetes and other complex
diseases. TGen's research is based
on personalized medicine. The institute
plans to accomplish its goals through
robust and disease-focused research.
About Affymetrix
Inc.
Affymetrix Inc. (Nasdaq:AFFX) scientists
invented the world’s first
high-density microarray in 1989
and began selling the first commercial
microarray in 1994. The microarray
technology is used by the world’s
top pharmaceutical, diagnostic and
biotechnology companies, as well
as leading academic, government
and nonprofit research institutes.
More information about Affymetrix
can be found at www.affymetrix.com.
