Fewer than half of all patients who are suspected of having a genetic disease actually receive a satisfactory diagnosis. To solve this problem, scientists have developed an innovative diagnostic procedure, called PhenIX, that combines the analysis of genetic irregularities with the patient's clinical presentation. The method involves a search for genes that cause disease and its related phenotypes to produce a short, testable list.
Deploying sophisticated high-throughput sequencing technology, a team of Whitehead Institute and Broad Institute researchers have collaborated on a comprehensive, high-resolution mapping that confirms a post-transcriptional RNA modification called pseudouridylation does indeed occur naturally in messenger RNA. This is somewhat surprising finding using a new quantitative sequencing method.
Building on previous animal and human research, a new study has identified an electrophysiological marker for threat in the brain. The findings illustrate how fear arises in the brain when individuals are exposed to threatening images, and the study is the first to separate emotion from threat by controlling for the dimension of arousal, the emotional reaction provoked, whether positive or negative, in response to stimuli.
Self-injury is one of the most difficult behaviors associated with autism and other developmental or intellectual disabilities, and a private facility outside Boston that takes on some of the hardest-to-treat cases is embroiled in a major debate: Should it use electrical skin shocks to try to keep patients from harming themselves or others?
Things can go downhill fast when a patient has sepsis, a life-threatening condition in which bacteria or fungi multiply in a patient's blood—often too fast for antibiotics to help. A new device inspired by the human spleen and developed by a team at Harvard's Wyss Institute for Biologically Inspired Engineering may radically transform the way doctors treat sepsis.
Researchers have discovered that a known quality control mechanism in human, animal and plant cells is active against viruses. They think this new form of a so-called “innate immune defense” might represent one of the oldest defense mechanisms against viruses in evolutionary history.
Bacteria secrete a mucus-like “extracellular polymeric substance” that forms biofilms, allowing bacterial colonies to thrive on surfaces. Costs associated with biofilms affecting medical devices and industrial equipment amount to billions of dollars annually. New research reveals specifics about interactions that induce bacteria to swim close to surfaces and attach to biofilms. This may point to future approaches for fighting biofilms.
Biologists claim that humans can perceive and distinguish a trillion different odors, but little is known about the underlying chemical processes involved. Biochemists at The City College of New York have found an unexpected chemical strategy employed by the mammalian nose to detect chemicals known as aldehydes.
For detecting cancer, manual breast exams seem low-tech compared to other methods such as MRI. But scientists are now developing an “electronic skin” that “feels” and images small lumps that fingers can miss. Knowing the size and shape of a lump could allow for earlier identification of breast cancer, which could save lives.
For decades, doctors have developed methods to diagnose how different types of cells and systems in the body are functioning. Now scientists have adapted an emerging biomedical technique to study the vast body of the ocean. In recent work they have demonstrated that they can identify and measure proteins in the ocean, revealing how single-celled marine organisms and ocean ecosystems operate.
An international team has engineered and studied “active vesicles." These purely synthetic, molecularly thin sacs are capable of transforming energy, injected at the microscopic level, into organized, self-sustained motion.The ability to create spontaneous motion and stable oscillations is a hallmark of living systems and reproducing and understanding this behavior remains a significant challenge for researchers.
New research in Europe suggests that testing the temperature of breath could be a simple and noninvasive method to either confirm or reject the presence of lung cancer. Many research teams have been looking at the possibility of using breath tests for a number of cancers but this is the first study looking at breath temperature as a marker in lung cancer.
A new class of synthetic platelet-like particles could augment natural blood clotting for the emergency treatment of traumatic injuries. The clotting particles, which are based on soft and deformable hydrogel materials, are triggered by the same factor that initiates the body’s own clotting processes.
Univ. of California, Berkeley neuroscientists plan to use light to tweak the transmission of signals in the brain to learn more about how the mouse brain and presumably the human brain process information. Last month, the promising optogenetics research project was awarded one of 36 new $300,000, two-year grants from the National Science Foundation in support of the BRAIN Initiative.
It may look like fresh blood and flow like fresh blood, but the longer blood is stored, the less it can carry oxygen into the tiny microcapillaries of the body. Using advanced optical techniques, researchers measured the stiffness of the membrane surrounding red blood cells over time. They found that, even though the cells retain their shape and hemoglobin content, the membranes get stiffer, steadily decreasing the cells’ functionality.
Up to 30% of people with the most common form of hemophilia develop antibodies that attack lifesaving protein injections, making it difficult to prevent or treat excessive bleeding. Now researchers have developed a way to thwart production of these antibodies by using plant cells to teach the immune system to tolerate rather than attack the clotting factors.
A new atomically thin 2-D ultrasensitive semiconductor material developed by researchers California promises to push the boundaries of biosensing technology toward single-molecule detection. Based on molybdenum disulfide or molybdenite, the biosensor material which is used commonly as a dry lubricant, surpasses graphene’s already high sensitivity, offers better scalability and lends itself to high-volume manufacturing.
An ambitious health startup from Google is teaming up with biotechnology drugmaker AbbVie in a $500 million joint venture that will try to develop new ways to treat cancer and other diseases such as Alzheimer's. The alliance announced Wednesday calls for Google Inc. and AbbVie Inc. to each invest $250 million in the project. An additional $1 billion may be poured into the project.
Cancerous brain tumors are notorious for growing back despite surgical attempts to remove them, and for leading to a dire prognosis for patients. But scientists are developing a new way to try to root out malignant cells during surgery so fewer or none get left behind to form new tumors. The technology relies on a Raman scanner that can read injected nanoprobes.
Scientists in Switzerland have developed a new amino acid that can be used to modify the 3-D structure of therapeutic peptides. Insertion of the amino acid into bioactive peptides enhanced their binding affinity up to 40-fold. Peptides with the new amino acid could potentially become a new class of therapeutics.
Because Brown Univ. biomedical engineering graduate student Molly Boutin needed to study how neural tissues grow from stem cells, she wanted to grow not just a cell culture, but a sphere-shaped one. Cells grow and interact more naturally in 3-D cultures than when they’re confined to thin slides or dishes.
Over the past several decades, malaria diagnosis has changed very little. After taking a blood sample from a patient, a technician smears the blood across a glass slide, stains it with a special dye and looks under a microscope for the Plasmodium parasite, which causes the disease. This approach gives an accurate count of how many parasites are in the blood, but is not ideal because there is potential for human error.
Cartilage lesions in joints often appear in older people as a result of degenerative processes, and appear in younger people after injuries and accidents. Such defects are difficult to repair and often require complicated surgery and long rehabilitation times. Researchers in Switzerland have reported that cells taken from the nasal septum are able to adapt to the environment of the knee joint and can thus repair articular cartilage defects.
DARPA’s new Electrical Prescriptions (ElectRx) program was among the initiatives the White House highlighted this week as President Barack Obama addressed the need for new and more effective strategies for improving the health of service members, veterans and others. ElectRx goes beyond medication, aiming to explore neuromodulation of organ functions to help the human body heal itself.
A big step in understanding the human genome has been unveiled in the form of three analyses that provide the most detailed comparison yet of how the genomes of the fruit fly, roundworm, and human function. The research compares how the information encoded in the three species’ genomes is “read out,” and how their DNA and proteins are organized into chromosomes. The results add billions of entries to the archive of functional genomic data.