Articles tagged with Medical Genetics
The American College of Medical Genetics and Genomics (ACMG) has partnered with Elsevier to publish its official journal, Genetics in Medicine. The partnership aims to increase the journal's visibility and influence in medical genetics and genomics research.
A study published in the American Journal of Medical Genetics describes the physical and neurologic characteristics of congenital Zika syndrome in 83 Brazilian children. The findings show that microcephaly, joint immobility, and brain abnormalities are common features, with some cases having milder symptoms.
A new study published in Nature Communications reveals that the Zika virus disrupts the proliferation of radial glial progenitors (RGPs), a type of stem cell essential for brain development. In genetic cases of microcephaly, NDE1 mutations cause RGP cells to fail to divide, resulting in severe brain developmental delays.
Dr. Peter Jones, Chief Scientific Officer at Van Andel Research Institute, has been elected to the National Academy of Sciences for his outstanding contributions to cancer research and epigenomics. His work focuses on developing novel approaches to cancer treatment and alleviating suffering from the disease.
The number of physician-scientists is expected to decline unless steps are taken to increase recruitment and mentoring. Physician-scientists make critical contributions to medical research and discoveries.
A new study from Harvard School of Public Health found that regular consumption of fried foods increases the risk of obesity in people with a genetic predisposition to obesity. The study analyzed data from three US cohort studies and found that high intakes of fried food exacerbated the deleterious effects of genetic variants associate...
The study replicated approximately 75% of the expected associations, demonstrating high-quality findings from self-reported data. 23andMe's web-based platform enables researchers to investigate hundreds of genetic factors in dozens of diseases efficiently and cost-effectively.
Researchers at Hebrew SeniorLife's Institute for Aging Research have examined nearly 100,000 genetic markers to determine which genes are responsible for osteoporosis and longevity. The studies found associations between specific genetic variants and traits such as bone mineral density and age at death.
Researchers review developmental and genetic basis of CDH, exploring potential treatments using animal models and examining connections to lung and cardiovascular development. Studies find that TO surgery can stimulate fetal lung growth, while genetic mutations in key pathways contribute to the condition.
A large germline deletion in the Chek2 kinase gene is associated with an almost doubled risk of prostate cancer. The study found this deletion in 24% of healthy people and 0.8% of diagnosed patients from Poland, suggesting a higher prevalence among men from eastern Europe.
A study of ancient Egyptian remains and art reveals that dwarfs were highly respected and integrated into society. Elite dwarfs held important positions, while ordinary ones specialized in various occupations, suggesting a positive image of short people in ancient Egypt.
A new study found that people with short variants of the APOB gene region have significantly lower total and low-density lipoprotein cholesterol levels in their blood. This association may contribute to a protective role of these variants in younger adults, while being detrimental to longevity in older individuals.
Jan L. Breslow and David A. Ness received the 2001 American Heart Association Gold Heart Award for their leadership in research, administration, and volunteer work. The award recognizes their significant contributions to advancing heart health through their work with the association.
Researchers successfully revived bacteria extracted from ancient bees preserved in amber, opening up new possibilities for pharmaceuticals and industrial applications. Ancient plant specimens are also being studied to understand genetic evolution and identify potential biocontrol uses.
Researchers at the University of Washington have discovered that removing a brain chemical called neuropeptide Y (NPY) can help reduce body fat in genetically obese mice. The study found that mice lacking NPY become only half as fat, eat less, and have a higher metabolic rate compared to their morbidly obese cousins.
Researchers identified a single gene regulating wing formation in fruit flies, revealing a fundamental understanding of how genes mastermind limb development. The discovery may lead to new avenues for preventing birth defects caused by genetic miscommunication.