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NIH 2005 Research
in Review
By Harrison Wein
NIH produces such a great number of research results each year
that it's tough to assemble a brief list of the year's highlights.
NIH has nearly 6,000 scientists in its laboratories and distributes
almost 50,000 competitive grants to more than 212,000 researchers
at over 2,800 universities, medical schools and other research
institutions in every state and around the world. Given the difficulty
of predicting which accomplishments among such a massive body of
work might prove to be most significant in the years to come, the
following is a sample of those recognized by the institute and
center press offices as being of particular interest in 2005:
- An international team supported by NHGRI published the genome
sequence of the dog. Because of selective breeding over the past
few centuries, modern dog breeds are a model of genetic diversity,
from 6-pound Chihuahuas to 120-pound Great Danes, from high-energy
Jack Russell Terriers to mild-mannered basset hounds, and from
the herding instincts of Shetland sheepdogs to pointers pointing.
However, selective breeding has also caused many dog breeds to
be predisposed to genetic disorders including heart disease,
cancer and blindness. In combination with the human genome, the
dog genome sequence will help researchers identify genetic contributors
to several diseases.
- The Chimpanzee Sequencing and Analysis Consortium, which is
supported in part by NHGRI, described its landmark analysis comparing
the genome of the chimp (Pan troglodytes) with that
of humans (Homo sapiens). The chimp sequence draft represents
the first non-human primate genome. Our closest living relatives
share 96 percent of our DNA sequence.
- Researchers supported by NIDCD successfully used gene therapy
to grow new hair cells and restore some hearing in deaf guinea
pigs. The scientists used a harmless virus to insert a gene called
Atoh1, a key regulator of hair cell development, into cells in
the inner ears of deaf adult guinea pigs. Eight weeks after treatment,
new hair cells had grown in the ears treated with Atoh1, and
their hearing had improved. This is the first time that researchers
have restored auditory hair cells in live adult mammals.
- The International HapMap Consortium, a public- private effort
to chart patterns of genetic variation in the world's population,
published the human haplotype map, or HapMap. With more than
1 million markers of genetic variation, the HapMap is a comprehensive
catalog of human genetic variation showing "neighborhoods" of
correlated genetic variation, or haplotypes, across the entire
human genome. Researchers will be able to identify genetic contributions
to common diseases far more efficiently using HapMap data than
with traditional approaches.
- The Antihypertensive and Lipid-Lowering Treatment to Prevent
Heart Attack Trial (ALLHAT), a long-term, multi-center trial
of antihypertensive therapies funded by NHLBI, found that diuretics
work better than newer therapies in treating high blood pressure
and reducing the risk of heart disease in both black and non-black
patients. The large study, with 33,357 participants, concluded
that diuretics should be the first therapy for most patients
with high blood pressure.
- Two studies provided a detailed analysis of the X chromosome's
DNA sequence and a survey of its gene activity. This first comprehensive
analysis of the sequence of the human X chromosome, supported
by NHGRI and NIGMS as well as by the Department of Energy, provides
new insights into the evolution of sex chromosomes and the biological
differences between males and females. Even though it contains
only 4 percent of all human genes, the X chromosome accounts
for almost 10 percent of inherited diseases caused by a single
gene, including red-green color blindness, hemophilia, some forms
of mental retardation and Duchenne muscular dystrophy. More than
300 diseases have already been linked to it.
- People with type 1 diabetes can lower their risk of heart
disease and stroke by about 50 percent by tightly controlling
their blood glucose levels, according to a study supported by
NIDDK and NCRR. The findings were based on a follow-up study
of patients who took part more than a decade ago in the Diabetes
Control and Complications Trial, a major clinical study funded
by NIDDK and other NIH components along with Genentech, Inc.
Continuing studies will reveal whether the same applies to those
with type 2 diabetes, the more prevalent form of the disease.
- A new method using both stem cells and gene therapy promoted
the growth of myelin, the "insulation" around nerve fibers, in
the damaged spinal cords of rats. It improved the animals' motor
function and electrical conduction from the brain to the leg
muscles. The finding, funded in part by NINDS and NCRR, may lead
to new ways of treating spinal cord injury in humans.
- Three independent research teams supported by NEI found a
gene, called complement factor H (CFH), that affects a person's
risk of developing age-related macular degeneration, the leading
cause of blindness in people over age 60. One team, which included
NIH researchers, found that people with this variant of the CFH
gene are more than 7 times more likely to develop the disease.
- People with more copies of a gene that helps to fight HIV
are less likely to become infected with the virus or to develop
AIDS than those who have fewer copies, according to a study funded
by NIAID. The gene encodes for CCL3L1, a potent HIV-blocking
protein that interacts with CCR5 — a major receptor protein
that HIV uses as a doorway to enter and infect cells. The finding
helps explain why some people are more prone to HIV/AIDS than
others.
- Experiments in female monkeys showed for the first time that
vaginal gels known as microbicides can protect against an HIV-like
virus. The research, funded largely by NIAID, suggests that microbicides
could potentially provide a safe, effective and practical way
to prevent HIV transmission to women.
- Two new studies strongly suggest that a mutation in a recently
discovered gene is the most common genetic cause of Parkinson's
disease identified to date. The finding could lead to the development
of a genetic test to detect the mutation in individuals at risk.
Scientists have long suspected that genetics play a role in the
onset of the disease. The investigators, which included researchers
at NIA and scientists supported by NINDS, found that a mutation
in the gene LRRK2 appears to occur in at least one of every 60
people who have the disease.
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