The study conducted by researchers at the University of Colorado Anschutz Medical Campus sheds light on the prevalence of men with additional X or Y chromosomes in the United States. This comprehensive research, published in JAMA Network Open, has significant implications for the early diagnosis and treatment of conditions associated with these genetic variations. However,
Genetics
In a groundbreaking study led by Chunmei Cui from Peking University, China, new insights have been revealed regarding the relationship between gender and cancer. The research sheds light on the significant sex-specific variances in copy number alterations (CNA) across various cancer types, emphasizing the need for a more gender-tailored approach in cancer prognosis and treatment.
The Synapse Diversity and Specificity Regulation Research Team at DGIST has made a groundbreaking discovery in profiling the molecular code that makes up brain neural circuits. Through their research, they have identified how this code regulates specific excitatory synapse traits that play a crucial role in memory formation, particularly in remembering new object locations. This
Cerebral palsy (CP) has long been attributed to environmental factors during birth, such as infections, injuries, or lack of oxygen. However, a recent Canadian-led study has shed light on the genetic contributors to CP. Through whole-genome sequencing of 327 children with CP, researchers identified genetic variants in 11.3 percent of the cases, with an additional
Rhabdomyosarcoma is a pediatric cancer with stagnant survival rates, prompting researchers to investigate new risk factors for improved risk stratification. A recent study led by Baylor College of Medicine explores the association between germline cancer-predisposition variants (CPVs) and outcomes in children with rhabdomyosarcoma. The researchers analyzed data from 580 children with rhabdomyosarcoma and observed a
Follicular lymphoma, the second most common type of lymphoma in the United States, presents as a slow-growing cancer that can sometimes progress into a more aggressive form. The reasons for this transformation have remained largely unknown, making it challenging to predict which patients are at risk of rapid progression. Therefore, there is a critical need
In a groundbreaking study conducted by scientists from the Translational Genomics Research Institute (TGen), 11 diverse polygenic longevity scores (PLS) have been formulated using data from four studies that link genetic variants to lifespan. These scores have the remarkable ability to not only predict long life but also denote resistance to certain age-related ailments including
The correlation between a mother’s diet during pregnancy and the development of her offspring has always been a topic of interest among researchers. An international team of researchers recently conducted a study that explores how the amount of protein consumed by pregnant women can affect the facial development of their unborn children. This study sheds
In a groundbreaking new study, researchers from the Wellcome Sanger Institute, along with collaborators from the University of Exeter and the University of Cambridge, have made significant strides in simplifying the process of diagnosing rare developmental disorders in children. By reassessing genetic data from nearly 10,000 families, they have demonstrated that a single genetic test,