Using an innovative exome sequencing strategy, a team of international scientists has shown that TUBA4A, the gene encoding the Tubulin Alpha 4A protein, is associated with familial amyotrophic lateral sclerosis (ALS).
Researchers now developed a new way to model the effects of these genetic mutations in mice. The approach, based on the genome-editing technique known as CRISPR, is much faster than existing strategies, which require genetically engineering mice that carry the cancerous mutations.
A research team has sequenced the genome of a 45,000-year-old modern human male from western Siberia. A genome comparison showed that he lived close in time to when the ancestors of present-day people in Europe and eastern Asia went different ways.
Sugar-sweetened soda consumption might promote disease independently from its role in obesity, according to a new study that found drinking sugary drinks was associated with cell aging.
Researchers have found vital new evidence on how to target and reverse the effects caused by one of the most common genetic causes of Parkinson’s.
Pancreatic cancer likely takes between 10 and 20 years to develop, providing the potential for a very “broad window” of intervention if detected early, which may be possible for people who inherit a predisposition, say researchers.
Scientists discovered an immune protein with paradoxical roles: It both aids and tamps down aspects of an immune system response, according to new research.
A new form of gene therapy for boys with X-linked severe combined immunodeficiency syndrome (SCID-X1), a life-threatening condition also known as “bubble boy” disease, appears to be both effective and safe, according to new research.
How much coffee do you drink every day? One cup in the morning? Or do you gulp it all day? Scientists have long known that your DNA influences how much java you consume. Now a huge study has identified some genes that may play a role.
By sorting human fat tissue cells by their expression of a certain gene, scientists were able to retrieve a high yield of cells that showed an especially strong propensity to make bone tissue.
Scientists have taken pictures of the BRCA2 protein for the first time, showing how it works to repair damaged DNA. Mutations in the gene that encodes BRCA2 are well known for raising the risk of breast cancer and other cancers.
The largest genome-wide association study (GWAS) to date, involving more than 300 institutions and more than 250,000 subjects, roughly doubles the number of known gene regions influencing height to more than 400.
Scientists have found that an enzyme best known for its fundamental role in building proteins has a second major function: to protect DNA during times of cellular stress.
Scientists studying two genes that are mutated in an early-onset form of Parkinson’s disease have deciphered how normal versions of these genes collaborate to help rid cells of damaged mitochondria.
Researchers have identified microRNAs that may cause colon polyps from turning cancerous. The finding could help physicians provide more specialized, and earlier, treatment before colon cancer develops.
A new study found that a bias toward certain types of DNA sequences during gene conversion may be an important factor in why certain heritable diseases persist in populations around the world.
A new genetic finding suggests that some people who are prone to hostility, anxiety and depression might also be hard-wired to gain weight when exposed to chronic stress, leading to diabetes and heart disease.
Scientists have moved a step closer to improving medical science through research involving muscle manipulation of fruit flies. They discovered in the flight muscles of Drosophila a new regulator of a process called alternative splicing.
Researchers have shown for the first time that a genetic switch allows Streptococcus pneumoniae to randomly change its characteristics into six alternative states.
What can DNA from the skeleton of a man who lived 2,330 years ago in the southernmost tip of Africa tell us about ourselves as humans? A great deal when his DNA profile is one of the "earliest diverged"– oldest in genetic terms– found to-date in a region where modern humans are believed to have originated roughly 200,000 years ago.
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.
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.
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.