Biological impacts Did swamps
of loneliness breed cities?
many people are going to be confident enough
in discovering a new mutation that they’d
be willing to terminate a pregnancy?” asks
Stephen Quake, who studies biophysics and
genomics at Stanford University in Palo Alto,
California. Although one goal in all carrier
screening is to encourage couples to screen
prior to conception, that’s currently rare.
In their test, Kingsmore and colleagues
screened 104 unrelated individuals; on aver-
age people carried mutations for about three
of the 448 diseases.The group built computer
software to analyze the DNA sequences
and, among other things, determine whether
they matched mutations already published.
They’ve since expanded the test to cover
570 diseases and are testing it on hundreds
HIGH-ENERGY PHYSICS
Fermilab to End Its Quest for Higgs Particle This Year
U.S. researchers will soon abandon their
search for the most coveted particle in high-
energy physics because of a lack of funding.
Researchers working at Fermi National
Accelerator Laboratory (Fermilab) in Bata-
via, Illinois, had wanted to run their 25-year-
old atom smasher, the Tevatron, through
2014 in hopes of spotting the so-called Higgs
boson before their European counterparts
could discover it with their newer, more pow-
erful atom smasher. But officials at the U.S.
Department of Energy (DOE), which funds
Fermilab, informed lab officials this week
that DOE cannot come up with the extra
$35 million per year to keep the Tevatron
going beyond September.
“Unfortunately, the current budgetary cli-
mate is very challenging and additional fund-
ing has not been identified. Therefore, …
operation of the Tevatron will end in [fiscal
year 2011], as originally scheduled,” wrote
William Brinkman, head of DOE’s Office of
Science, in a letter to Melvyn Shochet, chair of
DOE’s High Energy Physics Advisory Panel
(HEPAP) and a physicist at the University of
Chicago in Illinois. Pier Oddone, director of
Fermilab, had stressed that the lab could not
forsake future experiments to keep the Teva-
tron going. “Given the absence of additional
funding, it’s the right decision,” Oddone says.
CREDIT: DOE
Brinkman’s letter is the final chapter in
a long, tense tale for scientists at Fermilab.
www.sciencemag.org
138
more people.
Kingsmore admits to a catch-22 when it
comes to assessing whether a new variant is
a problem: The best shot at doing so comes
from carrier sequencing of many, many peo-
ple, just as Brody is doing with BRCA1 and
-2. But this means that “initially this test will
not have perfect knowledge of all diseases.”
He predicts it will be about a decade before
that changes, and he isn’t sure what, if any-
thing, physicians and prospective parents
should be told about variants of uncertain sig-
nificance before then.
One benefit of next-generation sequenc-
ing is that it’s far more accurate than what
came before it. When double-checking the
mutations that showed up in Kingsmore’s
Last February, officials at
the European particle phys-
ics lab, CERN, near Geneva,
Switzerland, announced that
their Large Hadron Collider
(LHC) would turn off for
all of 2012 for repairs. That
opened a window for physi-
cists at Fermilab to spot the
Higgs first—although CERN
officials are now considering
delaying repairs until 2013.
In August, Fermilab’s
scientific advisory panel rec-
ommended that lab officials keep running
the Tevatron through 2014 even if they didn’t
get another dime to do so. That advice didn’t
sit so well with Oddone, who announced a
month later that he could squeeze $15 million
from the lab’s $410 million annual budget but
needed DOE to provide $35 million more.
In October, a HEPAP subpanel approved
Oddone’s plan but said the Tevatron should
be shuttered if DOE came up empty-handed.
Many physicists believe that the hunt for
the Higgs, the theoretical key to explaining
how all particles obtain mass, is the most
important challenge in the field. They argue
that the Tevatron’s lower-energy and cleaner
collisions could help Fermilab beat CERN in
the race to uncover the Higgs if its mass falls
in the range indicated indirectly by measure-
SCIENCE VOL 331 14 JANUARY 2011
Published by AAAS
141
small sample against published work, about
a fifth of those were wrong. For example, he
cites a paper published about 20 years ago
on a mutation in a very rare disease, Lesch-
Nyhan syndrome, which reported a massive
DNA deletion. In fact, the deletion Kings-
more’s team found in one person (which was
predicted, based on bioinformatics analysis,
to have the biological effect described in that
older paper) was just four DNA bases long.
“They never intended that initial paper to be
Downloaded from www.sciencemag.org on January 31, 2011
the definitive paper 20 years ago,” says Kings-
more. But as with work in so many rare dis-
eases, studies are sparse and data often hard
to come by. He and others hope that sequenc-
ing on a much bigger scale will change that,
with time. –JENNIFER COUZIN-FRANKEL
“[T]he current
budgetary climate is
very challenging and
additional funding has
not been identified.”
—WILLIAM BRINKMAN,
U.S. DEPARTMENT OF ENERGY
ments on other particles—
between 121 and 144 times
the mass of a proton. Because
the Tevatron collides protons into antipro-
tons, it could also probe how a new particle
interacts with, or “couples” to, certain other
particles in order to prove whether it’s really
the Higgs. The LHC cannot probe those con-
nections as easily because it collides protons
with protons.
“I think we presented a very good sci-
ence case for continuing to run, but the fis-
cal realities just don’t allow us to go forward,”
says Rob Roser, a physicist at Fermilab and
co-spokesperson for the 600 researchers
working with the CDF particle detector, one
of two fed by the Tevatron. But DOE gave
scientists a fair hearing, he adds: “They have
to make very difficult decisions based on the
realities. I can’t fault them for that.”
–ADRIAN CHO
131