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Vol. LVIII, No. 2
January 27, 2006

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NIH 2005 Research in Review

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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