An international team of researchers has identified a new inherited neuromuscular disorder. The rare condition is the result of a genetic mutation that interferes with the communication between nerves and muscles, resulting in impaired muscle control.
Researchers report 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. Read more...
In response to an ongoing, unprecedented outbreak of Ebola virus disease (EVD) in West Africa, a team of researchers has rapidly sequenced and analyzed more than 99 Ebola virus genomes.
Scientists have solved the mystery of why a specific signaling pathway can be associated with alcohol dependence. This signaling pathway is regulated by a gene, called neurofibromatosis type 1 (Nf1), which is linked with excessive drinking in mice.
A multi-institution research network has published three major papers that map and compare the genomes and epigenomes of humans and two model organisms, the fly, Drosophila melanogaster, and the worm, Caenorhabditis elegans, in unprecedented detail.
Using an animal model, a research team has proven the efficacy of a more elegant way to treat the rare disease MPS I through direct gene transfer.
On this episode of Bioscience Technology This Week, Christina Jakubowski highlights the link between mid-life obesity and an increased dementia risk later in life. Our second story focuses on researchers who are sequencing salamander genomes.
Regardless of their stage or type, cancers appear to share a telltale signature of widespread changes to the so-called epigenome, according to a team of researchers. In a study of a broad variety of cancers the investigators say they have found widespread and distinctive changes to chemical marks known as methyl groups attached to DNA.
Scientists have identified chemical changes in the DNA of patients with Crohn’s disease that could help to screen people for the disease. These changes can be detected in blood samples, opening the door to a simple test for Crohn’s disease.
Researchers have developed a new integrated approach to pinpoint the genetic “drivers” of cancer, uncovering eight genes that could be viable for targeted breast cancer therapy.
On this episode of Bioscience Technology This Week, Christina Jakubowski covers a genetic mutation that allows high-altitude-dwelling Tibetans to survive in the peaks of the Tibetan Plateau. Our second story looks at how minor infections increase stroke risk in children.
Stem cell biologists have found a way to reprogram a patient’s skin cells into cells that mimic and display many biological features of a rare genetic disorder called familial dysautonomia.
A newborn screening test for severe combined immunodeficiency (SCID) reliably identifies infants with this life-threatening inherited condition, leading to prompt treatment and high survival rates, according to a new study.
On this episode of Bioscience Technology This Week, Christina Jakubowski highlights the possibility of using small sensors as biobatteries that can harvest power from sweat. Our second story covers a newly discovered plant “language."
Scientists have made it easier to predict both breast cancer relapses and responses to chemotherapy, through the identification of a unique gene, a new study shows.
Medical researchers have used DNA sequencing to identify a gene variant responsible for causing lupus in a young patient. The development shows that, for the first time, it is feasible for researchers to identify the individual causes of lupus in patients by using DNA sequencing.
A single factor can reset the immune system of mice to a state likely similar to what it was 500 million years ago. Scientists reactivated expression of an ancient gene in mice, which is not normally expressed in the mammalian immune system, and found that the animals developed a fish-like thymus.
NGS is revolutionizing the field of genome biology, with much faster data generation, increased accuracy, and a dramatic reduction of sequencing costs. Multiple genomes can now be sequenced in parallel by a single instrument in a matter of days. In the medical field, NGS is already having an impact in genetic screening and holds great potential in oncology, given the genetic aspects of cancerous disease.
A team of researchers has uncovered some of the strongest evidence yet that epigenetic changes in the brain play a role in Alzheimer’s disease. The current study found that chemical modifications to DNA within the ANK1 gene are strongly associated with measures of neuropathology in the brain.
A genetic variation linked to schizophrenia, bipolar disorder and severe depression wreaks havoc on connections among neurons in the developing brain, a team of researchers reports.
On this episode of Bioscience Technology This Week, Christina Jakubowski reports on the possibility of making nuts safer to eat for those with allergies. Our second story tackles important questions about which genes may drive antibiotic resistance.
UT Southwestern Medical Center researchers successfully used a new gene editing method to correct a mutation that leads to Duchenne muscular dystrophy (DMD) in a mouse model of the condition. Researchers used a technique called CRISPR/Cas9-mediated genome editing, which can precisely remove a mutation in DNA, allowing the body’s DNA repair mechanisms to replace it with a normal copy of the gene.
Gene-based personalized medicine has many possibilities for diagnosis and targeted therapy, but one big bottleneck: the expensive and time-consuming DNA-sequencing process. Now, researchers have found that nanopores in the material molybdenum disulfide (MoS2) could sequence DNA more accurately, quickly and inexpensively than anything yet available.
Releasing genetically engineered fruit flies into the wild could prove to be a cheap, effective and environmentally friendly way of pest control according to scientists at the University of East Anglia and Oxitec Ltd. This collaborative research study, with UEA shows that this approach is effective and once appropriate regulatory approvals are received the technology will offer growers a safe and effective route to protect their crops.
Scientists have known for decades that cancer can be caused by genetic mutations, but more recently they have discovered that chemical modifications of a gene can also contribute to cancer. These alterations, known as epigenetic modifications, control whether a gene is turned on or off.