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NIH Research Matters

January 10, 2011

2010 Research Highlights

NIH has about 6,000 staff scientists and supports more than 325,000 researchers at more than 3,000 institutions in the United States and around the world. Here's just a small sampling of the accomplishments made by NIH-supported scientists in 2010.

Clinical Breakthroughs

Prevention, Diagnosis and Treatment of Human Disease

Photo of an elderly man.

Alzheimer’s Disease Signature Seen in Spinal Fluid

Levels of 2 proteins in cerebrospinal fluid might be used to identify people with Alzheimer's disease before they show clinical symptoms. A distinct Alzheimer's signature—reduced levels of a specific beta-amyloid protein and increased levels of a phosphorylated tau protein—was found in 90% of Alzheimer's patients and 72% of people with mild cognitive impairment. The NIH-funded finding could open new opportunities for developing Alzheimer’s therapies.
PubMed Abstract: Diagnosis-independent Alzheimer disease biomarker signature in cognitively normal elderly people.

Microscope image of yellow-stained tb bacteria.

New Test Detects TB in Less than 2 Hours

An automated test, developed with NIH support, rapidly and accurately detected tuberculosis and drug-resistant TB bacteria. In a study of 1,730 patients, the test identified 98% of all confirmed TB cases in less than 2 hours and up to 90% of TB cases that were missed by a more common diagnostic method. The finding could pave the way for earlier diagnosis and more targeted treatment of this sometimes-deadly disease.
PubMed Abstract: Rapid molecular detection of tuberculosis and rifampin resistance.

Illustration of the heart and blood vessels.

Gene Variants Tied to Poor Outcomes with Heart Drug

Clopidogrel, a widely prescribed anti-clotting drug, was known to be less effective for heart patients with 2 copies of a variant gene, or up to 4% of the population. An NIH-funded study showed that patients with just 1 variant—another 26% of the population—may also be at risk. The finding advances our understanding of how to tailor medications based on genetic makeup.
PubMed Abstract: Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis.

Photo of a girl wearing a headscarf.

Immunotherapy Boosts Pediatric Cancer

A new antibody-based therapy prompted an immune system attack on tumor cells and significantly improved the survival rates of children with neuroblastoma, a deadly nervous system cancer. In an NIH-funded of 226 children with neuroblastoma, the new immunotherapy plus standard therapy raised the survival rate to 66%, compared to 46% for those receiving standard therapy. The study was stopped early because of the positive results.
PubMed Abstract: Anti-GD2 antibody with GM-CSF, interleukin-2, and isotretinoin for neuroblastoma.

Photo of dialysis equipment.

More Frequent Dialysis Improves Health of Kidney Patients

Kidney patients can fare better on an almost-daily hemodialysis regimen than on the standard 3-times-a-week plan, according to an NIH-funded study. More frequent dialysis led to improved heart health and blood pressure, better control of blood phosphate levels, and better overall health. The finding suggests that simple changes to current treatments might benefit the nearly 400,000 Americans who depend on dialysis to survive.
PubMed Abstract: In-center hemodialysis six times per week versus three times per week.

Photo of hands holding a medicine vial and a DNA label.

Patient’s Whole Genome Reveals Disease and Medication Risks

By evaluating the entire genome of a 40-year-old man, scientists pinpointed gene variants linked to cardiovascular disease and several other conditions in the man’s family, as well as diseases not known to be in his family. Some variants predicted the man’s likely responses to common medications, including certain heart medications. This NIH-funded study provides a glimpse into how whole-genome sequencing might one day be used in the clinic.
PubMed Abstract: Clinical assessment incorporating a personal genome.

Photo of two men.

Daily Drug Reduces Risk for HIV Infection

A pill that's currently used to treat HIV infection can also greatly reduce the risk of acquiring HIV among at-risk men, according to an NIH-funded study. The clinical trial enrolled nearly 2,500 men who have sex with men. Men who received a daily antiretroviral tablet were 44% less likely to acquire HIV infection during the study than those receiving placebo pills. The finding represents a major advance toward HIV prevention.
PubMed Abstract: Preexposure chemoprophylaxis for HIV prevention in men who have sex with men.

Photo of a girl blowing on a dandelion.

Best Treatment Differs for Kids With Asthma

Most children who have trouble controlling their asthma with low-dose inhaled corticosteroids show improvement by increasing the dose or adding another medication, an NIH-funded study reported. However, the best option differed for each child. The clinical study of over 150 children identified characteristics, such as ethnicity, that raise the likelihood of one treatment working better than another. The finding highlights the need for a personalized approach to treating pediatric asthma.
PubMed Abstract: Step-up therapy for children with uncontrolled asthma receiving inhaled corticosteroids.

Promising Medical Advances

Findings with Potential for Enhancing Human Health

Photo of a woman preparing a flu shot.

Progress on a Universal Flu Vaccine

NIH researchers developed a method to generate antibodies that attack a diverse array of influenza viruses in animals. The success moves scientists closer to a universal flu vaccine—one that protects against multiple viral strains for several years. After receiving a vaccine that targets a particular viral protein, followed by a booster shot, animals produced broadly neutralizing antibodies. Most were protected from death after exposure to the deadly 1934 flu virus.
PubMed Abstract: Induction of broadly neutralizing H1N1 influenza antibodies by vaccination.

Photo of a woman reading a nutrition label.

The Health Benefits of Cutting Salt

A computer model of heart disease in U.S. adults suggested that reducing salt intake by 3 grams per day could cut the number of new cases of coronary heart disease each year by as many as 120,000, stroke by 66,000 and heart attack by nearly 100,000. It could also prevent up to 92,000 deaths and save up to $24 billion in health care costs a year, the NIH-funded researchers estimated.
PubMed Abstract: Projected effect of dietary salt reductions on future cardiovascular disease.

Image of enlarged heart cells with organized red fibers.

Stem Cells Used to Create Cells to Study Heart Condition

Researchers made stem cell lines by reprogramming skin cells from patients with LEOPARD syndrome, a rare developmental disorder. The scientists coaxed the cells to become heart cells that had features seen in LEOPARD syndrome. These cell lines may now help researchers identify compounds that can reverse the characteristics of LEOPARD syndrome. The accomplishment is a major step toward using stem cells to model disease pathways and test potential treatments.
PubMed Abstract: Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.

Photo of a boy eating fast food.

Where Kids Get Their Empty Calories

Nearly 40% of the energy consumed by 2- to 18-year-olds comes in the form of "empty" calories, according to a study by NIH scientists. Half of those empty calories come from the solid fats and added sugars in just 6 sources: soda, fruit drinks, dairy desserts, grain desserts, pizza and whole milk. Experts recommend that kids limit their intake of empty calories to 20% or less of their total calories.
PubMed Abstract: Dietary sources of energy, solid fats, and added sugars among children and adolescents in the United States.

Photo of a young man talking.

First Genes Tied to Stuttering

NIH researchers and their colleagues identified 3 genes as a source of stuttering—the first time specific mutations have been tied to this speech disorder. Nearly 10% of people who stutter may have mutations in 1 of the 3 genes. The study of volunteers from 3 countries found that the genes may be linked to a glitch in cell metabolism, which could point to new approaches for treatment.
PubMed Abstract: Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

Photo of woman holding her hand to her head.

How Light Boosts Migraine Pain

An NIH-funded study of blind patients showed how light might intensify headache pain. Light exposure worsened migraine pain in blind patients who couldn’t perceive images but whose eyes could detect some light, even if they weren’t aware of it. Light had no effect on migraine patients who were totally blind. The finding, which suggests that light-sensing, non-image-forming eye cells may help trigger migraines, could lead to new approaches for calming light-induced headaches.
PubMed Abstract: A neural mechanism for exacerbation of headache by light.

Microscope image of clumps of spherical bacteria.

Preventing Bacterial Infections from Medical Devices

NIH scientists identified a protein that helps bacteria break away from medical devices like catheters and spread throughout the body. By treating mice with antibodies that block the protein, the researchers prevented the bacterium Staphylococcus epidermidis from spreading from a catheter to most other organs. The finding gives insight into how complex bacterial communities called biofilms cause disease and opens up new avenues for curbing biofilm-related infections.
PubMed Abstract: Staphylococcus epidermidis surfactant peptides promote biofilm maturation and dissemination of biofilm-associated infection in mice.

Illustration of an eye with AMD deposits.

Cholesterol Genes Tied to Age-Related Macular Degeneration

By analyzing the genomes of more than 18,000 people, NIH-funded scientists identified 3 new genes associated with the blinding eye disease age-related macular degeneration (AMD). Two of the genes are involved in the cholesterol pathway—a formerly unknown biological mechanism for AMD disease development. The finding raises the possibility that new treatment or prevention approaches might target these genes or pathways.
PubMed Abstract: Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Insights from the Lab

Noteworthy Advances in Basic Research

Molecular model of CXCR4 structure.

Structure of Receptor Involved in Cancer, HIV Infection

NIH-funded scientists determined the 3-dimensional structure of a protein involved in HIV infection and many forms of cancer. Using X-ray crystallography, the scientists captured snapshots of the protein, called CXCR4, bound to molecules that inhibit its activity. The images reveal how CXCR4 molecules form closely linked pairs, with inhibitors bound to their sides. The accomplishment could point to ways of locking out HIV and stalling cancer's spread.
PubMed Abstract: Structures of the CXCR4 chemokine GPCR with small-molecule and cyclic peptide antagonists.

Image of blood vessels in a lung.

Making a Lung Replacement

NIH-funded researchers made transplantable lung grafts for rats. The team built on recent advances in decellularization—the process of removing cells from a structure but leaving the architecture of the original tissue intact. The scientists showed that the engineered lungs functioned in the animals. They were also able to decellularize human lung segments while preserving their architecture. The study could pave the way for the development of an engineered human lung.
PubMed Abstract: Tissue-engineered lungs for in vivo implantation.

Illustration of a man's head with images inside.

Controlling Computers with Your Mind

A brain-computer interface let people control pictures on a computer screen by activating just a few brain cells. NIH-funded scientists monitored brain cell activity via wires that sent information from patients’ brains to a computer. In a simple computer game, participants were able to use their thoughts to control the images on the monitor nearly 70% of the time. The findings shed light on how single brain cells contribute to attention and conscious thought.
PubMed Abstract: On-line, voluntary control of human temporal lobe neurons.

Electron micrograph of rod-shaped bacteria.

Gut Bacteria May Influence Metabolic Syndrome

An NIH-funded study suggested that gut microbes, along with part of the immune system, may contribute to metabolic syndrome. Mice lacking an important immune receptor grew heavier than control mice and developed several features of metabolic syndrome. When gut microbes from these mice were transplanted into control mice, the recipient mice overate, became obese and diabetic. The next step will be to explore how gut microbes affect people's eating behavior.
PubMed Abstract: Metabolic syndrome and altered gut microbiota in mice lacking Toll-like receptor 5.

Photo of a porous scaffold.

Coaxing the Body’s Cells to Repair Damaged Joints

NIH-supported scientists developed a technique to regenerate damaged leg joints in rabbits. The researchers created porous scaffolds in the shape of leg bone tips and added a gel to aid cartilage development. By 3 to 4 weeks after surgery, the rabbits could move around almost as well as normal rabbits. Within 4 months, both bone and cartilage had regenerated. The accomplishment could point the way toward joint renewal in humans.
PubMed Abstract: Regeneration of the articular surface of the rabbit synovial joint by cell homing: a proof of concept study.

Photo of a man's hand holding a Neanderthal skull

Neanderthal Genome Sequenced

An international research team, including NIH scientists, produced the first whole-genome sequence of the Neanderthal genome—the closest evolutionary relative to humans. Neanderthal DNA is 99.7% identical to present-day human DNA and 98.8% identical to chimpanzee DNA. Present-day human DNA is also 98.8% identical to chimpanzee. The analysis suggests that up to 2% of the genome of present-day people outside of Africa originated in Neanderthals or their ancestors.
PubMed Abstract: A draft sequence of the Neandertal genome.

Photo of flexible, ribbon-like electrodes adhering to a plastic model of the brain.

Silk Helps Make Ultrathin Brain Interface

NIH-funded scientists developed ultrathin flexible implants made with a silk base that dissolves once it makes contact with the brain, allowing the electrode array to collapse into the brain’s grooves and stretch over its rounded surfaces. The ultrathin implants can record brain activity more faithfully than thicker implants. The new technology allows for closer interaction between machines and living tissue, paving the way for more advanced implantable devices.
PubMed Abstract: Dissolvable films of silk fibroin for ultrathin conformal bio-integrated electronics.

Photo of a young woman studying.

Stress Hormone Causes Epigenetic Changes

Researchers found that chronic exposure to a stress hormone altered DNA in the brains of mice, prompting changes in gene expression. NIH-supported scientists found that giving mice a stress hormone caused epigenetic modifications—changes to DNA that don’t alter sequences but influence gene expression—to a gene that has been tied to posttraumatic stress disorder and mood disorders in people. The finding provides clues into how stress might affect behavior.
PubMed Abstract: Chronic corticosterone exposure increases expression and decreases deoxyribonucleic acid methylation of Fkbp5 in mice.

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About NIH Research Matters

Editor: Harrison Wein, Ph.D.
Assistant Editors: Vicki Contie, Carol Torgan, Ph.D.

NIH Research Matters is a weekly update of NIH research highlights from the Office of Communications and Public Liaison, Office of the Director, National Institutes of Health.

ISSN 2375-9593

This page last reviewed on January 7, 2013

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