2013 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 2013, all 3 recipients of the Nobel Prize in Physiology or Medicine, and all 3 awardees of the Nobel Prize in Chemistry, received NIH funding at different times in their careers. Four NIH-funded scientists also won awards from the Lasker Foundation in 2013. Here's just a small sampling of the research accomplishments made by NIH-supported scientists in 2013:
Prevention, Diagnosis, and Treatment of Human Disease
Malaria kills hundreds of thousands of people each year, most of them young children in Sub-Saharan Africa. While scientists have made significant gains in understanding, treating, and preventing the disease, a vaccine has remained elusive. NIH researchers reported that a candidate malaria vaccine is safe and protected against infection in an early-stage clinical trial.
Women at risk for breast cancer may take certain types of medications that reduce the chance of developing the cancer. But in rare cases, the drugs can cause dangerous side effects. Many women decide that the chance of success doesn’t outweigh the risks. An international research team, with NIH support, found genetic variations that can be used to identify women who are most likely to benefit from this potentially life-saving strategy—and who should avoid it.
After a kidney transplant, patients must take medications with toxic side effects to keep their immune system from attacking the new organ. If doctors could track rejection status over time, they could adjust drug doses for more effective treatment. NIH-funded researchers found that certain molecules in urine can provide an early sign of transplant rejection. The test could allow doctors to act early to protect transplanted kidneys.
When adult patients with B-cell acute lymphoblastic leukemia have remission followed by relapse, the prognosis is poor. An NIH-funded team used a type of targeted immunotherapy to induce remission in 5 patients with this aggressive form of leukemia. The early results of the ongoing trial highlight the potential of this approach.
After a stroke, treatment for patients at high risk for a second stroke typically involves a medical program that includes blood-thinning medications and control of blood pressure and cholesterol. In hopes of improving the odds, doctors over the past decade began to also use an intracranial artery stent. An NIH-funded clinical trial confirmed earlier findings that stenting adds no benefits over aggressive medical treatment alone for most of these patients.
Warfarin is often prescribed to prevent blood clots in people with certain conditions. But determining the best dose can be tricky. Too much can cause excess bleeding; too little can lead to dangerous clots. Past research suggested that adding genetic data to clinical information would improve initial dosing. But an NIH-funded study contradicted that result, highlighting the importance of using clinical trials to assess the role of genetics in optimizing treatments.
Autism symptoms first appear during early childhood, and a definitive diagnosis can often be made by 2 years of age. Scientists have long been searching for ways to identify the condition at even younger ages, since outcomes tend to be better with earlier intervention. NIH-funded researchers found evidence that infants later diagnosed with autism show a steady decline in eye contact beginning as young as 2 months of age.
Past research has linked obesity to heart disease risk. But few studies have examined how the duration of obesity affects heart disease. NIH researchers found that how long a young adult is obese may affect that person’s heart disease risk in middle age. The finding suggests that not only preventing but also delaying the onset of obesity can help reduce heart disease later in life.
PROMISING MEDICAL ADVANCES
Findings with Potential for Enhancing Human Health
Concussions can have serious and lasting effects. However, the specific damage that occurs in affected brain tissue hasn’t been well understood. A study by NIH researchers provided insight into the damage caused by mild traumatic brain injury and suggested approaches for reducing its harmful effects.
In an NIH-funded study, scientists were able to direct human stem cells to form networks of tiny blood vessels that can connect to the existing circulation in mice. The finding might assist future efforts to repair and regenerate tissues and organs, which need an adequate blood supply to grow and survive.
Pathologists currently classify endometrial tumors by examining tissue under a microscope. A comprehensive genomic analysis of nearly 400 endometrial tumors revealed 4 novel endometrial tumor subtypes and also found similarities to other cancers. The findings, by an NIH-funded research network, suggest that genomic classification of endometrial tumors could help guide treatment strategies.
Autism, attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depression, and schizophrenia were traditionally thought of as distinct mental disorders. However, their symptoms can overlap, making it difficult to distinguish between them. An international research consortium funded by NIH discovered that these disorders share certain genetic glitches. The finding may point to better ways to diagnose and treat these conditions.
HIV, which causes AIDS in people, and the similar monkey virus SIV are thought to cause permanent infections in the body. Current therapies can control but not eliminate the virus. In an NIH-funded study, an experimental vaccine triggered a lasting immune attack in monkeys that eliminated all traces of SIV infection after a year or more. The finding points to a new strategy in the search for an effective AIDS vaccine.
The Human Microbiome
The human body hosts trillions of microbes. We’re now gaining a better understanding of the many roles that microbial communities and their genes—collectively known as the microbiome—play in human health and disease. NIH-funded scientists surveyed all the fungi living on human skin. They uncovered links between gut microbes and rheumatoid arthritis; discovered interactions among diet, gut microbes, and both heart disease and obesity; and found that microbes may also influence the effectiveness of cancer therapy andgastric bypass surgery.
Decades of widespread antibiotic use have encouraged the spread of bacteria with resistance to multiple antibiotics. To combat these multidrug-resistant bacteria, researchers have been searching for new classes of antibiotics that work by different mechanisms than current drugs. NIH-funded scientists developed an innovative method to quickly identify antibiotics that can treat multidrug-resistant bacteria—and reveal how these bacteria-killing medications work.
Shock is a life-threatening condition in which blood pressure drops and not enough blood and oxygen can get to organs. Inflammation has been strongly linked with shock, and past research suggests that this inflammation involves the digestive system. An NIH-funded study of rats found that blocking digestive enzymes in intestines increases survival, reduces organ damage, and improves recovery after shock. The approach may lead to new therapies to improve patient outcomes.
INSIGHTS FROM THE LAB
Noteworthy Advances in Basic Research
Scientists seeking to understand the brain’s fine structure and connections have been faced with tradeoffs. To examine deeply buried structures, they had to cut brain tissue into extremely thin sections. This deforms the tissue and makes it difficult to study brain wiring and circuitry. NIH-funded scientists developed a new technique to preserve the brain’s 3-D structure down to the molecular level with a hydrogel. It allows for study of the brain’s inner workings at a scale never before possible.
People with diabetes have difficulty maintaining blood glucose levels. The hormones insulin and glucagon are used by the body—and also used as medications—to help keep blood glucose in a safe range. An international team of researchers, funded in part by NIH, determined and analyzed the structure of the human glucagon receptor. The results may aid in the development of drugs for diabetes and other metabolic disorders.
Sleep is important for storing memories, and also has a restorative function. Sleep helps reasoning, problem-solving, and other functions. However, the mechanisms behind these benefits have been unknown. An NIH-funded study in mice suggests that sleep helps restore the brain by flushing out toxins that build up during waking hours though a special series of channels in the brain.
Specialized cells in the inner ear detect head movements, gravity, and sound. Researchers know the general scheme of inner ear development, but deeper knowledge will be critical for developing novel therapies for hearing loss and balance disorders. Using an innovative 3-D culture system, NIH-funded researchers were able to coax mouse embryonic stem cells to form complex cells and structures seen in the inner ear.
Defects in mitochondria, our cells’ biological power plants, have been associated with certain neurological disorders, including Parkinson’s disease, Charcot-Marie-Tooth syndrome, and the ataxias. NIH scientists used a novel approach, involving a protein tied to Parkinson’s disease, to identify dozens of genes that may contribute to disorders that involve mitochondria.
Nanoparticles are emerging as an efficient tool for drug delivery. Microscopic pouches of synthetic lipid can protect drug molecules within the body and deliver them to specific cells. However, these nanoparticles pose obstacles, including potential toxicity, environmental hazards, and large-scale production costs. NIH-funded researchers made nanoparticles from grapefruits and used them to deliver targeted drugs to treat cancer in mice. The technique may prove to be a safe and inexpensive alternative.
Speech disorders, such as stuttering, affect roughly 5% of children by the first grade. The underlying causes of most speech disorders, however, aren’t well understood. The process of speaking is one of the most complex actions humans perform. Scientists funded by NIH revealed the patterns of brain activity that produce human speech. The research may one day lead to new methods for treating speech disorders.
Living microbes can quickly and reliably produce proteins, the building blocks of the cell. This ability has long been harnessed to produce conventional proteins, such as insulin, for medical use. Synthetic biology seeks to redesign natural biological systems for new purposes. NIH-funded researchers developed a method to recode a bacterium’s genome to incorporate synthetic non-standard amino acids into its proteins. The technique can potentially turn microbes into efficient living factories that make novel compounds.