lunes, 22 de diciembre de 2014

2014 Research Highlights - NIH Research Matters - National Institutes of Health (NIH)

2014 Research Highlights - NIH Research Matters - National Institutes of Health (NIH)

National Institutes of Health (NIH) - Turning Discovery Into Health

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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

2014 Research Highlights

With NIH support, scientists across the country and the world conduct wide-ranging research to improve the health of the nation. Groundbreaking NIH-funded research often receives top scientific honors. In 2014, these honors included support for 1 of 3 Nobel laureates in chemistry and 4 NIH-funded recipients of awards from the Lasker Foundation. Here's just a small sampling of the research accomplishments made by NIH-supported scientists in 2014:


Prevention, Diagnosis, and Treatment of Human Disease
Woman getting a vaccine.

Ebola Research

The 2014 Ebola outbreak in West Africa is the largest such outbreak in history. More than 17,000 cases and 6,000 deaths have been reported. NIH-funded scientists used genomic sequencing technologies to identify the origin and track transmission of the Ebola virus in the current outbreak. Other NIH-funded researchers used computer model projections to provide insight into the dynamics of the outbreak. NIH has also intensified efforts to develop a protective vaccine. The vaccine was tested at the NIH Clinical Center, which also provided state-of-the-art care to a nurse who had contracted the Ebola virus.
Young man receiving training with spinal stimulation.

Paralyzed Men Regain Movement With Spinal Stimulation

Four young men paralyzed below the chest because of spinal cord injuries were able to regain control of some movement after receiving an experimental spinal stimulation therapy from a team of NIH-funded researchers. If confirmed in larger studies, this type of treatment may one day improve outcomes for people living with paralysis.
Caregivers clapping with baby.

Adult Health Improved by Early Childhood Programs

An early childhood program (birth through age 5) has been shown to bring higher academic achievement and career benefits later in life. According to a follow-up NIH-funded study, it can also help prevent disease. By their mid-30s, those who’d participated in the program—especially males—had significantly fewer risk factors for cardiovascular and metabolic diseases compared to a control group.
Nurse helping hospital patient.

Nurse Staffing, Education Affect Patient Safety

Patient deaths in hospitals might be reduced by easing nurses’ workloads and emphasizing education in hiring, an NIH-funded study suggested. Researchers estimated that each additional patient in a nurse’s workload increased the likelihood of a patient dying. An increase in nurses with bachelor’s degrees lowered the likelihood of patient death. These findings can help administrators make informed staffing decisions.
Woman and her son, who was diagnosed with a rare genetic disorder.

Clinical Exome Sequencing Detects Disease-Causing Glitches

In 2 NIH-supported studies, a fast, powerful technique called whole-exome sequencing provided a molecular diagnosis for about 1 in 4 people suspected of having a genetic disorder. Whole-exome sequencing focuses only on the DNA in the 1% of the human genome that codes for proteins, in contrast to the whole genome. The new tool may help doctors pinpoint the underlying causes of many rare and hard-to-diagnose genetic conditions.
A blood clot.

Gene Therapy Used to Treat Hemophilia

Hemophilia is a rare bleeding disorder in which blood doesn’t clot normally. The primary treatment for people with severe hemophilia B is frequent injections of factor IX, a protein that helps blood clot, for a lifetime. An experimental gene therapy with the human factor IX gene improved symptoms for as long as 4 years in men with severe hemophilia. The NIH-funded study shows the potential for gene therapy as a safe, effective approach.
Scientist taking a blood sample tube from a rack.

Study Points to Possible Blood Test For Memory Decline, Alzheimer’s

Many experts believe that successful treatment of Alzheimer’s disease will depend on early intervention before symptoms appear, but there isn’t yet any sure way to detect that stage. NIH-funded researchers identified a set of 10 compounds in the blood that might be used to distinguish older adults at risk for developing memory deficits or Alzheimer’s disease. More research is needed to confirm the findings, but the study suggests one possible approach.
Blood cells.

Stem Cell Transplant Reverses Sickle Cell Disease in Adults

There is no widely available cure for the inherited blood disorder sickle cell disease. Some children have been successfully treated with blood stem cell, or bone marrow, transplants. This approach was thought to be too toxic for adults. NIH researchers successfully treated adults with severe sickle cell disease using a modified stem cell transplant approach that doesn’t require extensive immune-suppressing drugs. Further follow-up and testing will be needed to assess the therapy.


Findings with Potential for Enhancing Human Health
A brain sitting on, and wrapped with, a road map.

An Atlas of the Developing Human Brain

The structure and function of the human brain is guided by gene expression patterns during prenatal development. NIH-supported scientists detailed the first comprehensive 3-D atlas of gene expression in the developing human brain. The resource will help reveal the early roots of brain-based disorders such as autism and schizophrenia.
Illustration of human body with various proteins throughout.

Revealing The Human Proteome

In 2003, the Human Genome Project created a draft map of the human genome—all the genes in the human body. In 2014, NIH-funded researchers completed a draft map of the human proteome—the set of all proteins in the human body. The accomplishment will help advance a broad range of research into human health and disease.
Brown fat in neck and upper back region.

Cool Temperature Alters Human Fat and Metabolism

Humans have several types of fat. White fat stores extra energy. Brown fat burns chemical energy to create heat and help maintain body temperature. NIH-funded researchers found that men exposed overnight to a cool temperature in a carefully controlled environment for a month had an increase in brown fat with corresponding changes in metabolism. The finding hints at ways to alter the body’s energy balance to treat conditions such as obesity and diabetes.
Tumor cells.

Isolated Cancer Cells May Lead to Personalized Treatments

Cells shed from tumors enter the bloodstream in very low numbers and circulate through the body. These cells can take root elsewhere, causing the spread of the cancer to other organs. Scientists supported by NIH used a novel microchip-based method to isolate and grow tumor cells circulating in blood. The technique provides an opportunity to test treatments on tumor cells, an important step toward personalizing cancer therapy.
Supercooled rat liver.

Preserving Livers for Transplantation

Liver transplantation is the only available treatment for severe liver failure. Livers can currently be preserved outside the body for up to 24 hours. NIH-funded scientists were able to increase the time that rat livers can remain viable outside the body to several days. If the approach succeeds in humans, it could aid organ transplant efforts.
Human stem cell-derived beta cells.

Developing Insulin-Producing Cells to Treat Diabetes

Diabetes is a disorder in the use of glucose, a sugar that serves as fuel for the body. One strategy to treat diabetes is to replace the damaged cells that normally make insulin, which triggers cells to take up sugar from the blood. NIH-supported researchers designed a protocol to transform human stem cells into beta cells that produce insulin and respond to glucose. The finding could lead to new stem cell-based therapies to treat diabetes.
Mycobacterium tuberculosis, the bacteria that cause TB.

Development of Antibiotics to Treat Tuberculosis

Tuberculosis (TB) is a contagious disease caused by infection with Mycobacterium tuberculosis bacteria. It's a leading cause of disability worldwide and results in 1.3 million deaths per year. An international team of NIH-funded researchers designed and tested a class of new antibiotics to treat TB. The work represents an initial step in developing therapies to combat drug-resistant forms of the disease.
Mouse and DNA sequences.

Comparative Genomics

Researchers often turn to model organisms in order to understand the complex molecular mechanisms of genome function. By analyzing the genomes of humans, flies, and worms, NIH-funded scientists uncovered many common, key features. The findings offer insights into embryonic development, gene regulation, and other biological processes that are vital to human biology and disease. The mouse in particular has long been used to gain insights into gene function, disease, and drug development. An international group of researchers funded by NIH gained insights into how similarities and differences between mice and people arise from their genomes. The findings will help scientists better understand how and when mouse models can best be used to study human biology and disease.


Noteworthy Advances in Basic Research

Method Can Target Specific Microbes

NIH-funded scientists designed a way to target and destroy specific DNA sequences in microbes, thus removing harmful bacterial genes. The team took advantage of a system called the CRISPR-Cas immune system, which bacteria use to protect themselves against invaders. The researchers modified the system to target genetic sequences associated with bacterial virulence or antibiotic resistance. The approach could be used to develop therapies against pathogenic bacteria, including those resistant to multiple antibiotics.
Stem cells on polymer scaffold.

Engineering Cartilage

Replacing cartilage lost in conditions such as osteoarthritis is a major goal in tissue engineering. Researchers supported by NIH developed a 3-D scaffold that guides the development of stem cells into specialized cartilage-producing cells. The approach could allow for the creation of orthopedic implants to replace cartilage, bone, and other tissues. Such implants could restore function immediately and allow development of natural tissue replacement.
Genetic sequence with multiple A-T and G-C pairs interrupted by one X-Y pair.

Expanding the Genetic Alphabet

Synthetic biology aims to redesign natural biological systems for new purposes. Scientists funded by NIH created the first living organism that can grow and reproduce using DNA base pairs that aren’t found in nature. The achievement is a major step toward retooling nature to create novel therapeutics and nanomaterials.
Induced pluripotent stem cells form a structure with layers of cells.

Stem Cells Form Light-Sensitive 3-D Retinal Tissue

Researchers supported by NIH induced human stem cells to form cup-like 3-D structures in a sequence of events that mimicked what occurs in the retina during human development. The structures developed layers containing all the major cell types normally found in the retina. The 3-D retina structure also responded to light. The finding may aid the study of eye diseases and potential new therapies.
Crescent-shaped clusters of pink Merkel cells at the ends of blue nerve fibers.

Discriminating Touch

The molecular mechanisms of how cells sense mechanical forces and send nerve signals to the brain are poorly understood. Two NIH-funded research teams revealed how cells in skin detect fine detail and texture. The findings may help scientists understand how aging and certain diseases can reduce our ability to sense touch. They could also lead to new approaches to restore the sense of touch.
Glutamate receptor

Structural States of a Brain Receptor Revealed

NIH scientists determined the structure and movement of the glutamate receptor, a protein in nerve cells involved in learning and memory. Problems with glutamate receptor function are thought to play a role in many disorders, including autism, schizophrenia, depression, Parkinson’s disease, and some types of cancer. The finding provides a better understanding of how the receptor works and may aid in the development of therapies that target the receptor.

Diet Affects Autoinflammatory Disease Via Gut Microbes

In autoinflammatory diseases, the innate immune system—the body’s rapid first line of defense against infection—becomes activated and triggers inflammation. An NIH-funded study in mice revealed that diet-induced changes to intestinal bacteria can influence susceptibility to autoinflammatory disease. The results could help guide new approaches to treat autoinflammatory diseases in susceptible people.
Mouse heart tissue.

Immune Cells in Heart Help it Mend

The heart of a newborn has a much greater capacity for repair than that of an adult. A team of NIH-funded scientists thought this might be due to different populations of macrophages, a type of immune cell found in tissues such as the heart. The researchers discovered that the hearts of mice have distinct macrophages that play a key role in recovery from damage. The findings suggest that potential treatment strategies for heart failure might target macrophages.

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