The American College of Physicians (ACP) has issued a position paper on the ethical use of genetic testing and precision medicine in internal medicine. The guidelines address key issues such as incidental findings, education for physicians and patients, and counseling needs. ACP emphasizes the need for ongoing surveillance and anticoag...
Researchers found that high temperatures induce epigenetic changes in zebrafish embryos, leading to sex reversal and altering the sex ratio. This study provides insights into the mechanisms behind climate change's impact on species with genotype-by-environment sex determination.
SourceFrontiers·JournalFrontiers in Cell and Developmental Biology·TypeExperimental study·DateJul 20, 2022
A new study published in the Journal of the American Heart Association found that people with high genetic risk for stroke can reduce their risk by 30-45% by adopting a healthy cardiovascular lifestyle. The study followed 11,568 adults over 28 years and showed that modifying lifestyle risk factors can offset genetic risk.
Scientists from OIST and colleagues reveal that Kamptozoa and Bryozoa belong together, contrary to previous studies. Using high-quality sequencing technology, they found the two phyla split from mollusks and worms earlier than thought, forming a distinct group.
A novel single-cell RNA sequencing technique, TAS-Seq, has been developed to provide higher-precision data than current methods. The new method detects more genes and identifies highly variable genes, making it a sensitive high-throughput scRNA method.
A recent review article highlights the crucial role of macrophages in the progression from acute kidney injury (AKI) to chronic kidney disease (CKD). The study suggests that targeting specific signaling pathways and altering macrophage activation can prevent renal fibrosis and CKD. Therapeutic strategies such as clodronate liposomes an...
A recent study by Indiana University researchers found that the structure of DNA storage in archaea affects its evolution rate. The study discovered that compacted DNA compartments change at a faster rate than less compacted ones. This discovery has potential impacts on research on genetic diseases like cancer.
Researchers studied meiotic cohesin complexes' effect on chromosome structure and genomic integrity in embryonic stem cells. Maintaining adequate levels of REC8 and STAG3 factors ensures chromosomal stabilization and sister chromatid cohesion.
Researchers at Gwangju Institute of Science and Technology have developed a new bioinformatics pipeline, CRESSP, to investigate the mechanism underlying autoimmune diseases following SARS-CoV-2 infection. The tool identified potential epitopes responsible for COVID-related autoimmune diseases and predicted cross-reactive epitopes of di...
Researchers discover that type 1 TPCs encode SV channels in plant vacuoles, while type 2 TPCs likely encode distinct ion channels. This study provides functional and evolutionary insights into the TPC family in plants, shedding light on their role in plant growth and defence mechanisms.
Researchers have identified the Xist gene as a critical regulator of fetal development in mice, leading to miscarriage and abnormal placentas when epigenetic instructions are missing. The study's findings suggest that failed Xist imprinting can be 'cured' by targeting specific genes involved in histone modifications.
Researchers studied peptide bond formation between tRNA molecules and a ribosomal RNA segment, revealing the potential for minihelices to bind to the primordial peptidyl transferase center. The study suggests that functional interactions between tRNA and PTC could have been 'revised' in evolution.
Researchers used CRISPR gene editing to understand how deletions in one area of the genome affect nearby genes. They found that deleting a small region led to increased foetal globin expression and reduced adult globin levels, suggesting a key mechanism for asymptomatic patients with sickle cell disease.
Researchers found that mutation frequencies in mitochondrial DNA of developing egg cells are lower and increase less with age compared to non-reproductive cells. This suggests a protective mechanism may keep reproductive cells relatively stable, potentially related to human propensity to reproduce at later ages.
SourcePenn State·JournalProceedings of the National Academy of Sciences·TypeExperimental study·DateApr 4, 2022
Researchers found early and persistent activation of neutrophils in patients who developed severe COVID-19. The study suggests that identifying specific gene signatures could lead to effective treatments targeting high-risk patients. This discovery may also inform the development of simple blood tests to prioritize treatment.
Researchers discovered that an inorganic polyphosphate released by nerve cells contributes to the death of motor neurons in people with ALS and frontotemporal dementia. The study found that lowering levels of this toxin may be an innovative therapeutic strategy for diverse types of ALS/FTD.
Researchers found that the Klotho gene can suppress glioblastoma cell viability and induce apoptosis, leading to a significant decrease in tumor growth. The study contributes to the development of new diagnostic and treatment approaches for malignant brain tumors.
Scientists at the University of Texas at Austin have redesigned a key component of the widely used CRISPR-based gene-editing tool Cas9 to be thousands of times less likely to target the wrong stretch of DNA. The new version, called SuperFi-Cas9, is as efficient as the original but reduces off-target interactions, making it potentially ...
A COVID-19 genetic risk variant inherited from Neandertals reduces the risk of contracting HIV by 27%. This variant is associated with fewer CCR5 receptors, which can lower the risk of HIV infection.
Researchers created a novel molecular diagnostic platform that can detect COVID-19 genes after only 8 cycles of amplification, significantly reducing the time required for diagnosis. The new SERS-PCR platform uses gold nanoparticles to produce high-sensitivity signals, providing an important tool in the fight against the pandemic.
Researchers confirm that Chevalier barley came from a single plant, analyzing seed samples older than 150 years. The study reveals how the single plant's genetic signature was preserved and used to create modern malting barley varieties.
Researchers at South Ural State University have identified biomarkers for post-traumatic stress disorder (PTSD) in veterans with long-lasting symptoms. Gamma-aminobutyric acid levels were found to be the most sensitive indicator, differing from reference values even years after traumatic events.
A UMass Chan clinical trial demonstrates the safety and efficacy of an antisense oligonucleotide in suppressing mutant C9ORF72, a common cause of familial ALS. The treatment led to reduced levels of neurotoxins and stable or improved ALS functional scores.
A new study at the University of Chicago has found that individuals of European and African genetic ancestry respond differently to influenza infection, with a stronger type I interferon pathway activation in those of European ancestry. This variation in immune response may contribute to disparities in influenza outcomes between differ...
Researchers from the University of Rochester have further evidence that genes are evolving defensive mechanisms to counteract harmful genetic elements. The study found that specific genes developed weapons-like structures to combat 'parasites' in the human genome, highlighting the ongoing 'arms race' between these two forces.
Researchers discovered regulation of cytokinin is central to balancing nitrogen acquisition. Legumes restrict nodules when nitrogen is abundant, acquiring instead from the soil.
Researchers sequenced the genomes of an ancient date palm leaf and found evidence of hybridization with wild relatives. The study sheds light on the evolution of date palms in North Africa, showing that genetic material from another species was present 2,200 years ago.
Researchers found that genes can be triggered by specific patterns of light exposure, producing varying levels of activity. The output was not directly correlated to the input, and controlling frequency gave precise control over gene activity.
A new study from Salk Institute researchers found that a critical threshold of miR-218 levels determines the development of ALS in animal models. The study sheds light on the complex control of gene expression and its implications for treating neurological disorders.
Researchers identified a novel lncRNA, Teshl, which plays a crucial role in the development of Y-bearing sperm and regulates sex chromosome gene expression. The study provides new insights into sex ratio variations and suggests that genetics may be a key factor in human male infertility.
Adam Guenzel, PhD has received the prestigious Richard King Trainee Award for his outstanding publication on Krabbe disease diagnosis and monitoring. The award recognizes Dr. Guenzel's research contributions to improving newborn screening protocols and novel biochemical assays.
Dr. Chaya N. Murali, a pediatric geneticist, received the 2020 Richard King Award for her outstanding research on patient-reported outcomes in children with osteogenesis imperfecta. Her award-winning article demonstrated the utility of a new data collection instrument.
Researchers at the University of Florida identified cells targeted by a male hormone and found that excess hormone exposure during fetal development can cause vaginal defects in females. The study found a specific window of hormonal influence and a type of cell responsible for guiding the developing vagina to its correct position.
Two papers address challenges in interpreting clinical genome and exome sequencing results. The CSER Consortium has developed approaches for using sequencing to diagnose rare diseases, cancer, and other conditions. A new set of guidelines may help different labs interpret sequencing results consistently.
The ACMG Foundation presents the first recipient of the David L. Rimoin Inspiring Excellence Award to Dr. Marcus Miller for his platform presentation on Metabolomic Analysis Uncovers Significant Trimethylamine N-oxide Production. The award supports research in metabolomics and human genetic disorders.
The FASEB MARC Program has awarded $3,700 to two students, Hilmarie Muniz-Talavera and Zuania Cordero Badillo, from underrepresented groups. The program aims to increase diversity in biomedical research.
Despite a quarter century of evolution, bacteria in Richard Lenski's lab continue to adapt and become more fit. Researchers used a 'frozen fossil record' of bacteria samples from different generations to measure their trajectory, finding that they never reach a fitness peak but instead follow a power law function.
Dr. Eric Olson has won the 2012 Passano Award for his groundbreaking research on the genetic pathways that control heart development and function. His discoveries have profoundly influenced our understanding of congenital and acquired diseases of the heart, leading to advances in new cardiovascular therapeutics.
Agricultural Research Service scientists developed a DNA marker-assisted breeding method to speed up the development of scab-resistant barley cultivars. This approach increases the efficiency of selection and reduces breeding time, benefiting small-grain breeders in the Northern Plains.
A team of economists and molecular geneticists found that individuals with a high-activity variation of the MAOA gene prefer longshot lottery plays and purchase less insurance, suggesting an inborn bias in financial decision-making. This discovery complements recent findings on the neurobiological basis of economic risk-taking.
Dr. DeBose-Boyd, an associate professor of molecular genetics, will receive $1.5 million in funding to support his innovative cholesterol research directions. His work focuses on regulating and controlling cholesterol production, with potential implications for preventing and treating heart disease.
Scientists have long debated the birthplace of the European potato. New genetic information reveals that remnants of early potatoes are of Andean and Chilean origin, with possible hybrids. This finding challenges previous assumptions and has implications for breeding programs.
Dr. DeBose-Boyd's work may shed light on heart disease prevention and treatment through his research on HMG CoA reductase enzymes. He is one of five recipients nationwide, supporting groundbreaking research addressing fundamental mechanisms of human disease.
Novel genetic profiling can identify residual tumors and precancerous lesions, allowing for targeted treatment. Early clinical trials show promise for gene-mediated strategies to replace defective sequences and block signal transduction.
Dr. Gibson received the IADR Research in Oral Biology Distinguished Scientist Award for her groundbreaking research. She is recognized as one of the top researchers in the field, with a long history of publishing prestigious papers and serving on numerous review bodies.
Researchers Drs. Michael Brown, Joseph Goldstein, and Eric Olson recognized for their contributions to cardiovascular disease management and treatment. Their groundbreaking research led to the development of statins used by 13 million Americans to treat high cholesterol.
The American Society of Human Genetics workshop presents an overview of early childhood cardiac disorders and their impact on quality of life in adulthood. Panelists discuss recognizing asymptomatic cardiac conditions and understanding the role of environmental factors in cardiovascular disease.
Research found an association between childhood-onset schizophrenia and large CAG/CTG repeats in male patients. The study confirms previous findings on adult-onset schizophrenia but notes a gender-specific link. Further studies are needed to confirm these results.