Wednesday, April 25, 2018
Ever since the Human Genome Project (HGP) launched in 1990, patients and members of the public have been inundated with predictions about how unraveling the mysteries of genetics will revolutionize healthcare. Today, many of these promises remain unrealized, prompting some to become skeptical of the true utility of this research for improving human health. But, while more work is needed to fully realize the potential of genome-focused medicine, it remains true that patients are benefiting from our knowledge of the human genome in numerous, sometimes under-appreciated ways.
Tuesday, April 24, 2018
In the midst of the 1957 Asian flu pandemic, doctors and researchers were understandably focused on treating patients and developing ways to contain the outbreak. It wasn’t until 30 years later that scientists began reporting that women who were pregnant when they caught the virus were more likely to have children who would later be diagnosed with schizophrenia.1 While that relationship remains controversial,2 numerous studies have since linked activation of a pregnant woman’s immune system with an increased risk that her child will develop certain psychiatric disorders, including not just schizophrenia but also autism spectrum disorder and major depressive disorder.3 A new IRP study has now expanded on this work by showing that exposure to higher levels of two immune system molecules in utero can noticeably alter the neurological and cognitive development of young children.4
Tuesday, April 10, 2018
Every forty seconds, someone in the United States suffers a stroke, and researchers across the country are hunting for a way to help brain cells survive these traumatic events. A group of IRP researchers recently discovered a promising new tool to aid in this effort. By blocking the action of a brain chemical called monoacylglycerol lipase (MAGL), the scientists markedly reduced stroke-related brain damage and disability in rats.1
Thursday, March 29, 2018
Alex Fuksenko, a senior at the University of Maryland in College Park, spent his summer in the lab of NIH IRP Investigator Kevin Briggman, Ph.D.
Fuksenko helped to create a website called Labrainth that “gamifies” the identification and tracing of neurons in 2D images produced by electron microscopes. By visiting the website and completing those activities, members of the public can earn points and move up leaderboards while producing data that machine learning algorithms can use to learn how to trace neurons in these images themselves, a necessary step towards producing an accurate 3D model of the human brain.
Tuesday, March 27, 2018
Like a bear leaves its ominous footprints in the snow, diseases and other biological processes often leave traces throughout our bodies. Recent technological and scientific advances have enabled clinicians to use measurements of these ‘biomarkers’ in their attempts to improve our health. A new study by IRP researchers revealed that patients with a sleep disorder called obstructive sleep apnea (OSA) have higher blood concentrations of certain biomarkers that may foreshadow poor brain health later in life.1
When people with OSA sleep, their throat muscles relax and block their windpipes, preventing proper breathing and often waking them up. As a result, these individuals get lower-quality sleep and their brains receive less oxygen at night.
“The overall idea is that those two conditions are not good for brain health, but nobody had really looked to see if some of the biomarkers we see in brain injury are also common in younger individuals with this type of disordered breathing,” says IRP Lasker Clinical Research Scholar Jessica Gill, Ph.D., R.N., the study’s senior author.
Tuesday, March 13, 2018
Food companies have long marketed carbohydrate-rich drinks and energy bars to athletes with the message that the energy those snacks provide is key to lifting heavier and running farther. A new mouse study by IRP researchers, however, suggests that skipping a meal (or several) might be far more effective for increasing athletic prowess1.
Unlike modern Americans used to three square meals a day, our ancient ancestors couldn’t exactly throw a TV dinner in the microwave whenever they felt a bit peckish. As a result, they probably found themselves hunting wooly mammoths and fending off saber-toothed tigers on an empty stomach.
“From an evolutionary perspective, animals in the wild – particularly predators – need to be able to function at a high level when they’re in a food-deprived state,” says IRP Senior Investigator Mark P. Mattson, Ph.D., the study’s senior author. “Individuals who were able to perform at a high level in a fasted state had a survival advantage.”
Wednesday, March 7, 2018
Once confined to the realms of science fiction, virtual reality (VR) has crossed over into the real world in a wide array of fields, including scientific research and clinical medicine. In the IRP, several researchers are utilizing the cutting-edge technology in their efforts to improve human health.
Susan Persky, Ph.D., for instance, runs the Immersive Virtual Environment Test Unit, where she uses VR to simulate how genetic information might affect doctor-patient interactions and influence patients’ emotions, beliefs, and decisions. She has also put the technology to use studying the food choices of overweight and obese individuals by presenting them with a simulated buffet. Meanwhile, John Ostuni, Ph.D., explores how VR might help doctors diagnose or treat patients, such as by providing access to physical therapy without going to the hospital. And Victor Cid, M.S., creates virtual reality scenarios for the Disaster Information Management Research Center that can train emergency personnel how to more effectively respond to major crises.
On Friday, February 23, they joined several NIH colleagues for a Reddit “Ask Me Anything” (AMA) to answer questions from the public about how virtual reality might change the way medicine and research are practiced and ultimately make people’s lives better. Read on for some of the most interesting exchanges that took place or check out the full AMA on Reddit.
Monday, March 5, 2018
Carly Kaplan, a junior at Brown University in Providence, Rhode Island, spent her summer working in the lab of NIH IRP Investigator Dr. Kareem Zaghloul. As a member of Dr. Zaghloul’s team, Carly examined how the human brain creates and recalls memories. An aspiring doctor, she believes that this sort of research is “the backbone of the medical profession” and that “doctors can’t do what they do without the research behind it.” While at NIH, she was particularly intrigued by the opportunity to watch Dr. Zaghloul perform neurosurgery on the epilepsy patients who were part of in his lab’s studies.
Tuesday, February 27, 2018
In one of Aesop’s classic fables, a clever wolf dons a sheep’s skin in order to move through the herd undetected. As it turns out, IRP researchers have discovered that in people with a specific set of immune system genes, the HIV virus uses a similar approach to hide from the body’s defenses.1
Nearly all cells in our bodies are coated with proteins called human leukocyte antigens (HLAs). These proteins allow the immune system to distinguish between healthy, native cells and those contaminated by unwelcome visitors like viruses or bacteria that must be destroyed. Each of the various HLA proteins is encoded by a different HLA gene and these genes vary considerably between individuals, causing different people to have different variants of each HLA protein.
“There are thousands of different forms of these HLA genes, and that variation allows us, as a species, to deal with virtually all infectious pathogens,” says IRP Senior Investigator Mary N. Carrington, Ph.D., the senior author of the new paper. “We’re really interested in the diversity of that part of the genome, since the risk of essentially every autoimmune disease, many cancers, and probably every infectious disease is associated with this set of genes.”
Tuesday, February 27, 2018
Between 25 and 30 million Americans have a rare disease, defined as a condition affecting fewer than 200,000 people. On March 1, the NIH will host its annual Rare Disease Day to increase awareness of these under-recognized and often undiagnosed illnesses and highlight the efforts of scientists, patients, and advocates to produce treatments.
In anticipation of the occasion, on February 23, NIH organized a Twitter chat with NIH Director Francis Collins, M.D., Ph.D., and Sharon Terry, President and CEO of Genetic Alliance and a member of the Research Program Advisory Panel for NIH’s All of US project. Check out some of the more noteworthy exchanges below or look at the full Twitter chat by searching for #NIHchat on Twitter.