A multicenter research team led by Columbia University Medical Center (CUMC) has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.
On top of the meaning and mystery that humans heap on the heart, it is first and foremost, a muscle. And one that beats about once a second for a person’s entire life, with no rest. Given its vital importance, it’s ironic researchers have only recently made direct observations of its subcellular parts in motion.
Last year, scientists at the University of California San Francisco (UCSF) revealed that by measuring the proportion of both immune and cancerous cells in tumours, or ‘tumour purity,’ clinicians could more precisely predict the success of certain precision therapies. A key aspect of the discovery was access to over 10,000 samples constituting 21 different cancers.
Cancer is rarely the result of a single mutation in a single gene. Rather, tumors arise from the complex interplay between any number of mutually exclusive abnormal changes in the genome, the combinations of which can be unique to each individual patient. To better characterize the functional context of genomic variations in cancer, researchers at University of California San Diego School of…
Data presented at the European Congress of Clinical Microbiology and Infectious Diseases diseases has highlighted how a recently-discovered mechanism could mean one of the last-resort antibiotics is under threat. Evidence put before ECCMID suggested the genetic mechanism allowing bacteria to develop and transfer resistance to colistin has been present in several countries around the world –…
Georgetown University researchers are reporting the first case of Alzheimer’s disease diagnosed in an HIV-positive individual. The finding in a 71-year-old man triggers a realization about HIV survivors now reaching the age when Alzheimer’s risk begins to escalate.
An international research group with essential participation of the Paul-Ehrlich-Institut, has identified NLRX1, a cellular factor of the human cell that is indispensable to the replication of Human Immunodeficiency Virus (HIV-1). This factor plays a key role in attenuating the innate immune system towards HIV-1. Until now, the significance of NLRX1 for the replication of HIV-1 and the…
A simple blood test can rapidly and accurately detect mutations in two key genes in non-small cell lung tumors, researchers at Dana-Farber Cancer Institute and other institutions report in a new study – demonstrating the test’s potential as a clinical tool for identifying patients who can benefit from drugs targeting those mutations.
The fates of immune cells can be decided at the initial division of a cell. Researchers at St. Jude Children’s Research Hospital have discovered that the production of daughter cells with different roles in the immune system is driven by the lopsided distribution of the signaling protein c-Myc. Nudging c-Myc in one direction or the other could make vaccines more effective or advance…
Researchers presented findings on the prevalence of the mcr-1 gene, a transferable genetic mechanism of antimicrobial-resistance to colistin - the last resort antibiotic in a number of circumstances. At a session dedicated to late-breaking abstracts on colistin resistance, researchers presented evidence on the prevalence of the gene in bacteria (including Enterobacteriaceae such as Escherichia…
A team of researchers at the MedUni Vienna has, in collaboration with the AIT Austrian Institute of Technology, developed two new PET tracers that allow the activity of drug transporters at the blood-brain barrier to be measured. The studywas able to demonstrate that people with a genetic polymorphism in a transporter gene have lower transporter activity at the blood-brain barrier, which can lead…
How do neurons become neurons? They all begin as stem cells, undifferentiated and with the potential to become any cell in the body. Until now, however, exactly how that happens has been somewhat of a scientific mystery. New research conducted by UC Santa Barbara neuroscientists has deciphered some of the earliest changes that occur before stems cells transform into neurons and other cell types.
Many viral diseases tend to become chronic – including infections with the HI virus. In persons affected, the immune response is not sufficient to eliminate the virus permanently. Scientists at the University of Bonn have now identified an immune factor which is partially responsible for this. Their results give rise to hopes for new therapeutic approaches. The work, which included researchers…
It turns out that the type, how frequent, and where new mutations occur in the human genome depends on which DNA building blocks are nearby, found researchers from the Perelman School of Medicine at the University of Pennsylvania.
When there is an accident or a house fire, we call the police or the fire services. A control room quickly coordinates emergency operations. The cells in our bodies also have helpers in a crisis; the heat-shock proteins. These are triggered in response to cellular stress, such as high temperature, UV radiation or cancer. Heat-shock proteins help other proteins maintain their functional structure…
Humabs BioMed SA and the Institute for Research in Biomedicine (IRB) affiliated to the Università della Svizzera italiana announced the identification, isolation and characterization of two Ebola virus neutralizing monoclonal antibodies from the blood of a survivor of an Ebola infection.
By using drug delivery vehicles, so-called nanocarriers, pharmaceuticals reach the diseased area in the body. There they accelerate the healing process. But in order to prevent them from getting ingested by phagocytes, the surfaces of the nanocarriers are typically coated with the biocompatible synthetic polymer poly(ethylene glycol) (PEG). Scientists at the Mainz University Medical Center and…
An international public-private research consortium has identified and validated a cellular role of a primary Parkinson’s disease drug target, the LRRK2 kinase. This important finding illuminates a novel route for therapeutic development and intervention testing for Parkinson’s, the second most common neurodegenerative disease after Alzheimer’s.
Touch a hot stove, and your fingers will recoil in pain because your skin carries tiny temperature sensors that detect heat and send a message to your brain saying, "Ouch! That's hot! Let go!" The pain is real and it serves a purpose, otherwise we'd suffer greater injury. But for many people with chronic pain, that signal keeps getting sent for months or years, even when there is no…
Researchers at Duke Health are fine-tuning a test that can determine whether a respiratory illness is caused by infection from a virus or bacteria so that antibiotics can be more precisely prescribed.
It’s the dream of many infertile couples: to have a baby. Tens of thousands of children are born by in vitro fertilization, or IVF, a technique commonly used when nature doesn’t take its course. However, embryos obtained when a sperm fertilizes an egg in a test tube often have defects. In a study, researchers at the University of Montreal Hospital Research Centre (CRCHUM) discovered an…
Australian scientists have for the first time revealed how malaria parasites cause an inflammatory reaction that sabotages our body's ability to protect itself against the disease. The discovery opens up the possibility of improving new or existing malaria vaccines by boosting key immune cells needed for long-lasting immunity. This could even include vaccines that have previously been ineffective…
Mom’s eyes and dad’s tumor? Cancer is due to genetic defects, some of which can be hereditary. The gene variant rs351855, for example, occurs in one in two cancer patients. A team headed by Axel Ullrich from the Max Planck Institute of Biochemistry in Martinsried identified the gene variant a decade ago. Now, they succeeded for the first time in showing that the variation exposes an otherwise…
Scientists have shown for the first time that an enzyme crucial to keeping our immune system healthy “surfs” along the strands of DNA inside our cells. The researchers used extremely powerful microscopy to watch how the enzyme AID (activation-induced deoxycytidine deaminase) moves around and interacts with other molecules.
Turns out dads are also eating for two. A study published in Cell Metabolism reveals that a man's weight affects the heritable information contained in sperm. The sperm cells of lean and obese men possess different epigenetic marks, notable at gene regions associated with the control of appetite. The comparisons, which included 13 lean men and 10 obese men, offer one biological explanation for…