The largest ever study of the genetics of the brain – encompassing some 36,000 brain scans – has identified more than 4,000 genetic variants linked to brain structure. The results of the study, led by researchers at the University of Cambridge, are published in Nature Genetics today.
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The research, published in Proceedings of the National Academy of Sciences, used a genetic approach to fix deafness in mice with a defective Spns2 gene, restoring their hearing abilities in low and middle frequency ranges. Researchers say this proof-of-concept study suggests that hearing impairment resulting from reduced gene activity may be reversible.
Over half of adults in their 70s experience significant hearing loss. Impaired hearing is associated with an increased likelihood of experiencing depression and cognitive decline, as well as being a major predictor of dementia. While hearing aids and cochlear implants may be useful, they do not restore normal hearing function, and neither do they halt disease progression in the ear. There is a significant unmet need for medical approaches that slow down or reverse hearing loss.
New research from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King’s College London has successfully reversed hearing loss in mice.
Continue reading “Researchers reverse hearing loss in mice” »
Group A streptococci are one of the most common pathogens that humans are exposed to, and they can cause infections with a wide range of severities, from mild rashes and sore throats to flesh-eating and systemic infections that can be fatal. The number of these infections is also on the rise, although the reasons are unclear. Now researchers have learned more about why these pathogens can be mild in some people, and hit others hard. The findings have been reported in Nature Communications.
Scientists suspected that some interaction between a person’s genetics and the bacterial pathogen could be leading to such varied outcomes, said study co-author Fredric Carlsson, a researcher at Lund University.
A genetically modified pig kidney transplanted into a brain-dead man on life support has exhibited regular functioning for over a month, showing no signs of rejection or infection.
A new milestone in animal-to-human organ transplants in the United States has been achieved.
A gene-edited pig kidney implanted into a brain-dead man on life support has been functioning normally for over a month with no signs of rejection or infection.
Researchers from Monash University in Melbourne and The University of Western Australia have demonstrated how a reprogramming method imitates embryonic epigenetic reset. Transient naive treatment (TNT) reprogrammed human induced pluripotent stem (hiPS) cells that are molecularly and functionally more similar to human embryonic stem (hES) cells than primed hiPS cells, which are more like cells in the post-implantation embryo. This research suggests that TNT reprogramming has the potential to set a new standard for therapeutic and biomedical uses.
The research article “Transient naive reprogramming corrects hiPS cells functionally and epigenetically” was published online today in Nature.
“Our work shows that TNT reprogramming is a practical and scalable approach to overcome these intrinsic characteristics of hiPS cells, which is important for the clinical delivery of this technology,” stated the authors. “We foresee TNT reprogramming becoming a new standard for biomedical and therapeutic applications.”
Since 2014, the ALS Ice Bucket Challenge has inspired more than 17 million people to raise $115 million for The ALS Association, which has funded over 500 research projects with the money. Because of that boost, the first drug to treat ALS has been approved by the FDA, other new treatments are in testing, and scientists have been able to identify several genes that are connected to the disease.
While mutations in a gene called NEK1 have only been associated with around two percent of ALS cases, it is one of the primary genetic causes of ALS that have been revealed so far. Now investigators have learned more about how NEK1 mutations can lead to ALS, a disease in which the motor neurons that control movement degenerate and die, which causes paralysis and eventually, death. The work has been reported in Science Advances.
In a recent pre-print study posted to the medRxiv* server, researchers conducted a comprehensive genome-wide association study (GWAS) to elucidate the genetic architecture of circulating retinol, identify its potential causal relationships with various clinical phenotypes, and evaluate its therapeutic or nutritional implications.
Study: Genetic influences on circulating retinol and its relationship to human health. Image Credit: SciePro/Shutterstock.com.
*Important notice: medRxiv publishes preliminary scientific reports that are not peer-reviewed and, therefore, should not be regarded as conclusive, guide clinical practice/health-related behavior, or treated as established information.
Benjamin Oakes’ Scribe Therapeutics is developing specialized Crispr proteins to tackle a wide range of diseases–and it’s garnered deals with Big Pharma potentially worth over $4 billion.
Genome-wide association analyses of magnetic resonance imaging data describe the genetic architecture of 13 cortical phenotypes at both global and regional levels, implicating neurodevelopmental and constrained genes.
