Articles tagged with Medical Genetics
Researchers developed a method called 6mASCOPE that measures DNA tagging system accuracy and distinguishes bacterial from human DNA. The study found high levels of methylation in plant, fly, mouse, and human cells, but mostly attributed to contamination.
Researchers analyzed DNA sequences and electronic health records of thousands of individuals to discover that the chance a pathogenic genetic variant may cause a disease is relatively low, about 7 percent. However, some variants are linked to wide range of risks for disease.
A study of over 6,000 women found that US-born Black women are at higher risk of preeclampsia, but this is not solely due to their racial background. Factors such as biology, social and cultural elements, and access to healthcare also play a role in this disparity.
A world-first study published in the New England Journal of Medicine found that whole genome sequencing can uncover new diagnoses for people with rare diseases. The pilot study analyzed 4,660 individuals and found a new diagnosis for 25% of participants, including 14% not detectable by other conventional methods.
A new study tracked the spread of a genetic mutation that causes young-onset heart arrhythmia across continents over centuries. The research found that the mutation was passed down from Northern Europe to other parts of the world through migration, and identified a specific gene, KCNQ1, as the cause of the disease.
Researchers have discovered a genetic mutation called retroCHMP3 that can block the replication of certain viruses like HIV and Ebola by disrupting their ability to exit an infected cell. This finding has the potential to lead to the development of new medical interventions against these deadly diseases.
The VCU Massey Cancer Center has established a Translational Research Center in Lung Cancer Disparities (TRACER) to address racial disparities in lung cancer. TRACER will investigate the interaction between stress, smoking, and gene expression to raise lung cancer risk in Black men.
Researchers have identified a molecule called fractalkine that can boost the production of brain cells producing myelin, a key factor in diseases such as multiple sclerosis. The study's findings suggest that fractalkine could be used to treat certain neurodegenerative disorders by restoring lost myelin.
Flipon genetics proposes that evolution happens on a faster time scale than Darwin imagined, with rapid adaptations occurring in real-time within individuals. This is achieved through the simple sequence repeats of DNA, which can adopt alternative shapes and transmit adaptations to offspring.
A new study published in Blood Cancer Discovery reveals that children with acute myeloid leukemia (AML) who have more DNA changes in their blood stem cells are more likely to survive. The researchers hope that this finding can be used as a tool to identify high-risk patients and improve treatment outcomes.
Researchers developed a machine learning tool, BoostDM, that evaluates the potential contribution of mutations in genes to cancer development. The tool helps understand how tumors are caused at the molecular level and can facilitate medical decisions regarding therapy.
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.