New research has answered the long-standing question of why mutations to the RB1 gene primarily cause tumors of the retina and not of other cell types. The study could reveal new cellular signaling pathways relevant to retinal development, cancer development, and ultimately, the development of novel therapies.
Over 500 million people worldwide carry a genetic mutation that disables a common metabolic protein called ALDH2. The mutation, which predominantly occurs in people of East Asian descent, leads to an increased risk of heart disease and poorer outcomes after a heart attack. Now, have learned for the first time specifically how the mutation affects heart health.
On this episode of Bioscience Technology This Week, Christina Jakubowski covers research showing that measuring the brain’s response to sights and sounds can help in classifying people on the autism spectrum. Our second story looks at how the human response to unfairness may have involved in support of long-term cooperation.
Life expectancy, affected by numerous factors such as better nutrition and availability of vaccines, has increased. Around 150 years ago it was something like 40 years old, and 1,000 years ago about 25. But even as we increasingly reach what appear to be the limits of lifespan, there is likely still scope for even longer lifespans.
How people perceive and taste alcohol depends on genetic factors, and that likely influences whether they "like" and consume alcoholic beverages, according to researchers.
New research on an enzyme linked to cancer development shows that 37 percent of mice that produce excessive quantities of the enzyme developed skin tumors within four to 12 months of birth, and many of these growths progressed to highly invasive squamous cell carcinoma, a common form of skin cancer.
A person’s face is the first thing that others see, and much remains unknown about how it forms— or malforms— during early development. New research has begun to unwind these mysteries.
Scientists have discovered an on-and-off “switch” in cells that may hold the key to healthy aging. This switch points to a way to encourage healthy cells to keep dividing and generating, for example, new lung or liver tissue, even in old age.
On this episode of Bioscience Technology This Week, Christina Jakubowski focuses on a new study that used a short movie to detect consciousness in vegetative state patients. Our second story explores how the amazing variety in human faces is the result of evolutionary pressure.
The DNA of every organism on Earth is a right-handed double helix, but why that would be has puzzled scientists since not long after Francis Crick and James Watson announced the discovery of DNA's double-helical structure in 1953.
Spontaneous mutations in the brain gene TBR1 disrupt the function of the encoded protein in children with severe autism. In addition, there is a direct link between TBR1 and FOXP2, a well-known language-related protein, according to a new study.
By comparing nine ancient genomes to those of modern humans, scientists have shown that previously unrecognized groups contributed to the genetic mix now present in most modern-day Europeans.
On this episode of Bioscience Technology This Week, Christina Jakubowski reports on new research seeking to prove how life on Earth began, by tracking the ancestors of RNA and DNA. Our second story focuses on the possibility of developing high-quality computed tomography scans from a lower radiation dose.
Researchers have identified clues to explain how breast implants may, on very rare occasions, contribute to the development of lymphoma. There have been 71 known cases worldwide of a type of blood cancer called anaplastic large cell lymphoma (ALCL) that the researchers suggest were associated with the patient's breast implants.
Researchers have identified a highly sensitive means of analyzing very tiny amounts of DNA. The discovery, they say, could increase the ability of forensic scientists to match genetic material in some criminal investigations.
Neuroscientists have found that a gene mutation that arose more than half a million years ago may be key to humans’ unique ability to produce and understand speech.
Researchers have identified nine genetic variants that dramatically increase the risk of developing type 2 diabetes, adding to our knowledge of the disease’s underpinnings and providing a glimpse of its vast genetic diversity.
A rare genetic disorder known as Jacobsen syndrome has been linked with autism, according to a recent joint investigation by researchers. In addition to suggesting better treatment options for people with Jacobsen syndrome, the finding also offers more clues into the genetic underpinnings of autism.
The story of cancer care seems so simple: find the mutated gene that causes cancer and turn it off or fix it. But rarely does a single gene cause cancer. More often, many genes are altered together to drive the disease. So the challenge becomes sorting out which altered genes are the most to blame in which cancers. A new study takes an important step toward answering this question in bladder cancer.
Researchers have discovered how two genes– Period and Cryptochrome– keep the circadian clocks in all human cells in time and in proper rhythm with the 24-hour day, as well as the seasons.
New research shows that schizophrenia isn’t a single disease but a group of eight genetically distinct disorders, each with its own set of symptoms.
Researchers have found that the genetic mutation BRAFV600E , frequently found in metastatic melanoma, not only secretes a protein that promotes the growth of melanoma tumor cells, but can also modify the network of normal cells around the tumor to support the disease's progression.
A new study has identified a pathological process that takes place in both mice and humans towards one of the most common diseases that people face in the industrialized world: type 2 diabetes.
Last November, the Food and Drug Administration ordered the company to stop marketing its personalized health reports, which purported to tell customers if they were genetically predisposed to more than 250 diseases and medical conditions. Now, 23andMe is working to win FDA clearance for its health tests one at a time.
Over the years researchers have made tremendous strides in the understanding and treatment of cancer by searching genomes for links between genetic alterations and disease. Now, a team of researchers has mined "junk DNA" sequences to identify a non-protein-coding RNA whose expression is linked to ovarian cancer.