Feature Channels: Genetics

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Johns Hopkins Medicine scientists say their 20-year study of more than 200 people with premature aging syndromes caused by abnormally short telomeres, or shortened repetitive DNA sequences at the ends of chromosomes, may upend long-held scientific dogma and settle conflicting studies about how and whether short telomeres contribute to cancer risk.

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Once adults reach age 65, the threshold age for the onset of Alzheimer’s disease, the extent of their genetic risk may outweigh age as a predictor of whether they will develop the fatal brain disorder, a new study suggests.

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A study from the UC Davis School of Medicine has identified a gene-enzyme interaction that appears to play a key role in how the brain forms memories. The findings provide insights into how PDE inhibitor medications may help diseases like Alzheimer’s. The research was published in Science Signaling.

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Curious to know if you’re at risk for two common heart conditions? Your doctor may want to check the shape of your heart.

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A National Eye Institute-led team has identified a compound already approved by the U.S. Food and Drug Administration that keeps light-sensitive photoreceptors alive in three models of Leber congenital amaurosis type 10 (LCA 10), an inherited retinal ciliopathy disease that often results in severe visual impairment or blindness in early childhood.

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The largest-yet analysis of ancient DNA in Africa, which includes the first ancient DNA recovered from members of the medieval Swahili civilization, has now broken the stalemate about the extent to which people from outside Africa contributed to Swahili culture and ancestry.

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A rapid genetic testing model for patients with advanced prostate cancer can more quickly identify those with "actionable" gene variants eligible for newer targeted therapies, reports a clinical trial in the May issue of The Journal of Urology®, an Official Journal of the American Urological Association (AUA). The journal is published in the Lippincott portfolio by Wolters Kluwer.

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A DNA editing tool adapted by Oak Ridge National Laboratory scientists makes engineering microbes for everything from bioenergy production to plastics recycling easier and faster.

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A new study published today in the Journal of Molecular and Cellular Cardiology Plus by Timothy A. McCaffrey, professor of medicine at the George Washington University School of Medicine & Health Sciences and INOVA Fairfax Hospitals demonstrates how RNA biomarkers may be used to confirm heart disease. The study, which involves the largest analysis of blood RNA from patients with angiographically confirmed CAD, adds several novel dimensions to the current understanding of heart disease and could one day lead to a simple blood test that would help doctors diagnose heart disease in the physician’s office.

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Researchers have identified two distinct subtypes of insulin-producing beta cells, or ß cells, each with crucial characteristics that may be leveraged to better understand and treat Type 1 and Type 2 diabetes.

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George Jabboure Netto, MD, an internationally recognized physician-scientist specializing in genitourinary pathology and molecular genetic pathology, has been named chair of the department of Pathology and Laboratory Medicine at Penn Medicine, effective Aug. 1, 2023.

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Surgeons can play a key role in reducing breast cancer disparities by increasing their awareness of where disparities exist.

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Scientists have identified an autoinflammatory disease caused by mutations in the LYN gene, an important regulator of immune responses in health and disease.

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Nearly double the number of young adults under 55 are being diagnosed with colorectal cancer than a decade ago. This most recent significant increase in CRC among the younger population, Dr. Xavier Llor says, is more associated with a patient’s environment, including all sorts of exposures, and diet.

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The Departments of Neurology and Neurosurgery at Cedars-Sinai highlighted progress against Alzheimer’s disease, Parkinson’s disease, ALS, multiple sclerosis, brain cancer and stroke in their 2023 Annual Report, which also details advancements in spine surgery.

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The history of the Earth has been one of physical extremes—extreme atmospheric conditions, extreme chemical environments, and extreme temperatures.

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As health care professionals, researchers and consumers increasingly use genetic testing, they are uncovering incidental genetic abnormalities, or variants, that are associated with cardiovascular diseases.

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The breast tumors of Asian, Black and white women have very different cellular, microbial and genomic features that could potentially be used to personalize care or predict disease progression, according to new research by investigators at the Johns Hopkins Kimmel Cancer Center.

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A new study reported in JAMA Network Open unveils disparities in Mesothelioma survival, a grant to help construction workers nail quitting smoking, a new AI algorithm that offers insights into deadly cancer, a newly launched Neuroendocrine Tumors Program, a cancer researcher chosen to co-lead Tumor Biology Program and more are in this month’s tip sheet from Sylvester Comprehensive Cancer Center.

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Metabolic pathways consist of a series of biochemical reactions in cells that convert a starting component into other products. There is growing evidence that metabolic pathways coupled with external stress factors influence the health of cells and tissues.

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Using artificial intelligence, researchers have discovered how to screen for genetic mutations in cancerous brain tumors in under 90 seconds — and possibly streamline the diagnosis and treatment of gliomas, a study suggests. The newly developed system, DeepGlioma, identified mutations used by the World Health Organization to define molecular subgroups of diffuse glioma with an average accuracy over 90%.

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People infected with SARS-CoV-2, the virus that causes COVID-19, may experience genome structure changes that not only may explain our immunological symptoms after infection, but also potentially link to long COVID, according to a new study by researchers at UTHealth Houston.

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An international research team has developed a meta-scale approach to quantifying the human proteome and the massive number of protein variants produced by the human body. Proteomics is a cornerstone of biology and a precursor to understanding how protein dysfunction contributes to disease.

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Congenital arhinia (meaning patients born without a nose) is a rare condition associated with high mortality if not identified. As most babies when born are obligate nose breathers, the condition requires immediate attention. The clinical condition is a very rare genetic disorder that, in severe cases, causes congenital absence of the nose with life threatening conditions.

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A new study published in Science Advances has not only revealed that an ALHS in Colias butterflies has an ancient origin, but also determined the mechanisms contributing to its persistence over millions of generations.

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The cystic fibrosis transmembrane conductance regulator has been studied for years but the combined efforts of St. Jude Children’s Research Hospital and Rockefeller University have yielded new insights.

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Below is a brief roundup of news and story ideas from the experts at UCLA Health. For more information on these stories or for help on other stories, please contact us at [email protected].

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New research led by Washington University School of Medicine in St. Louis identifies a common genetic signature that may increase a person's risk of developing substance use disorders. The work eventually could lead to universal therapies to treat multiple substance use disorders and potentially help people diagnosed with more than one.

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Researchers from Kyushu University have found how a single mechanosensitive protein induces the process that thickens and scars tissue, known as fibrosis.

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International team of scientists deciphers renowned composer’s genome from locks of hair.

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An investigational molecule has been shown to improve kidney function in people with one form of chronic kidney disease in a small phase 2 clinical trial. Martin Pollak, MD, discusses the journey from research question to potential cure.

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A better understanding of the genetic biomarkers underpinning multiple sclerosis (MS) may lead to predictors of disease that could improve management of the condition, according to new research presented at Physiatry ’23, the Association of Academic Physiatrists (AAP) annual meeting.

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Much of a child’s development owes to the cute little satellite dishes attached to the sides of their noggin. A Penn State Health expert discusses the first steps you take to understand your child’s ability to hear.

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The cellular glitches underlying a rare genetic disorder called activated PI3K Delta syndrome 2 (APDS2) have been identified by researchers at the Garvan Institute of Medical Research.

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Patients with a family history of age-related macular degeneration (AMD), the leading cause of permanent vision loss in those older than 60, should visit an ophthalmologist by age 55 to be screened for signs of the disease, advises an expert at UT Southwestern Medical Center.

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Genes long known to control the formation of bones before birth also control bone healing later in life, a new study found.

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Staphylococcus aureus, Clostridioides difficile, Candida auris, Drug-resistant Shigella. These bacteria not only have difficult names to pronounce, but they are also difficult to fight off. These bacteria may infect humans and animals, and the infections they cause are harder to treat than those caused by non-resistant bacteria. Antimicrobial resistance is an urgent global public health threat.

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University of Utah Health scientists have corrected abnormal heart rhythms in mice, suggesting a new strategy for treating arrhythmogenic cardiomyopathy, the leading cause of cardiac arrest in young athletes.

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Depression is widely reported to be more common in women than in men, with women twice as likely to receive a diagnosis than men.

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Researchers in China have successfully restored the vision of mice with retinitis pigmentosa, one of the major causes of blindness in humans. The study, to be published March 17 in the Journal of Experimental Medicine, uses a new, highly versatile form of CRISPR-based genome editing with the potential to correct a wide variety of disease-causing genetic mutations.

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视网膜色素变性症是人类失明的主要原因之一。中国的研究人员成功地恢复了患有视网膜色素变性症的小鼠的视力。该研究将于[三月十七日]发表在《实验医学杂志》上。该研究使用一种新型的、高度通用的CRISPR基因组编辑技术，有潜力纠正各种导致疾病的遗传突变。

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Hair loss in women can be emotionally devastating and may negatively impact quality of life, and new research suggests that it can also be associated with having other common medical conditions.

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Omnitrophota are nano-sized bacteria first discovered 25 years ago. Though common in many environments around the world, until now they've been poorly understood. An international research team produced the first large-scale analysis of Omnitrophota genomes, uncovering new details about their biology and behavior. The team’s findings are reported in the March 16 issue of the journal Nature Microbiology.