Feature Channels: Genetics

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Researchers have identified several genetic variants associated with increased risk of cancer in children with non-chromosomal birth defects, such as congenital heart disease and defects of the central nervous system. While the risk of developing cancer is not as high as children with chromosomal birth defects, it is significantly higher than children with no birth defects at all, and the findings may provide a basis for early detection in these understudied patients.

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Researchers have discovered a specific genetic variant in SCN1A, the most common genetic epilepsy, that leads to an earlier onset of epilepsy, with clinical features distinct from other epilepsies. The researchers also identified a potentially effective treatment strategy.

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The Children’s Tumor Foundation (CTF) and the University of Arkansas for Medical Sciences (UAMS) announced the opening of the first CTF-sponsored, fully multidisciplinary clinic dedicated to the care of adults with neurofibromatosis (NF) at the UAMS Winthrop P. Rockefeller Cancer Institute.

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Less than 20% of diagnosed breast cancers are designated “triple-negative,” lacking three types of receptors often found in other breast cancer types.

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The University of Texas MD Anderson Cancer Center’s Research Highlights provides a glimpse into recent basic, translational and clinical cancer research from MD Anderson experts.

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UNC School of Medicine's Jin Szatkiewicz, PhD, and colleagues conducted one of the first and the largest investigations of tandem repeats in schizophrenia, elucidating their contribution to the development of this devastating disease.

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A majority of younger women diagnosed with breast cancer reported significant sexual health impacts, which most health care providers were unable to help address, according to an LBBC study to be presented at the 2022 San Antonio Breast Cancer Symposium®.

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ROSEMONT, Ill. (November 30, 2022) — Board-certified dermatologist John Browning MD, FAAD, FAAP, adjunct associate professor of pediatrics and dermatology at UT Health in San Antonio, was named an American Academy of Dermatology Patient Care Hero for his expertise in laser treatments that helped relieve his pediatric patient's pain and improve his quality of life.

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Inflammatory response linked to amyloid plaque buildup

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An innovative protocol called PepSeq is changing the way researchers test for contagious diseases—and this knowledge should change the way humanity responds to future pandemics. NAU researcher Jason Ladner and a team of collaborators from TGen published a comprehensive study about PepSeq that lays out the process, the tool and how to interpret the results.

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A family history of cancer and genetic variants that might be inherited appear to be important risk factors for Black men diagnosed with early-onset prostate cancer, a study involving Duke Health researchers has found.

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Measuring the amount of DNA that’s been shed by a tumor compared to the body’s typical amount of DNA may be a new tool to predict survival and guide treatment discussions for patients whose cancer has spread from the breast, prostate, lung or colon, a new study finds.

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UC San Diego researchers identify the PKCα enzyme as a promising therapeutic target in Alzheimer’s disease; a mutation that increases its activity led to biochemical, cellular and cognitive impairments in mice.

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A common chemotherapy drug could carry a toxic inheritance for children and grandchildren of adolescent cancer survivors, Washington State University-led research indicates.

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A team of Duke researchers has identified a group of human DNA sequences driving changes in brain development, digestion and immunity that seem to have evolved rapidly after our family line split from that of the chimpanzees, but before we split with the Neanderthals.

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MYC genes and their proteins play a central role in the emergence and development of almost all cancers.

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About 600 seemingly disparate fungi that never quite found a fit along the fungal family tree have been shown to have a common ancestor, according to a University of Alberta-led research team that used genome sequencing to give these peculiar creatures their own classification home.

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A new animal study points to a gene that is important for the earliest development of basic social behaviors.

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A prescrição de determinados nutrientes, grãos, frutas e legumes personalizados para os genes e outras características biológicas de uma pessoa pode ajudar a melhorar sua saúde? Os pesquisadores da Mayo Clinic estão explorando os possíveis benefícios da orientação personalizada de dieta e de nutrientes para os genes, o metabolismo, o microbioma e outras características distintas de uma pessoa.

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Puede ayudar a mejorar la salud de una persona la prescripción de una dieta específica de nutrientes, cereales, frutas y verduras adaptada a sus genes y otras características biológicas? Los investigadores de Mayo Clinic están explorando los posibles beneficios de adaptar los nutrientes y la orientación alimentaria a los genes, el metabolismo, el microbioma y otras características distintivas de una persona. El objetivo final del enfoque holístico es promover la salud y ayudar a prevenir las enfermedades relacionadas con la dieta, como las enfermedades cardíacas, la diabetes y algunos tipos de cáncer.

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Revealing various signaling pathways in metabolism of oxygen, glucose, lipids, proteins and other nutrients is crucial for better understanding of human physiology and diseases.

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罗切斯特，明尼苏达州 — 如果根据一个人的基因和其他生物学特征来制定包含特定营养物质、谷物、水果和蔬菜的专门食谱，是否有助于改善他们的健康状况？妙佑医疗国际(Mayo Clinic) 的研究人员正在探索根据一个人的基因、新陈代谢、微生物群系和其他区别特征来定制营养物质和膳食指南的潜在益处。这种综合方法的最终目标是改善健康，帮助预防与饮食相关的疾病，包括心脏病、糖尿病和某些癌症。

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UC San Diego Alpha Stem Cell Clinic awarded $8M to expand clinical trials of novel stem cell therapies. The CIRM award will advance partnerships between academic and industry experts in San Diego to expedite clinical trials for patients with difficult-to-treat diseases.

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A RUDN biologist for the first time described the genetic and other features of more than 50 strains of a bacterium that infects many crops around the world. The results will be important for plant breeding for resistance to phytopathogens

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A team of researchers mapping a molecular atlas for ductal carcinoma in situ (DCIS) has made a major advance toward distinguishing whether the early pre-cancers in the breast will develop into invasive cancers or remain stable.

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More than 20 UT Southwestern Medical Center scientists are among the 2022 Highly Cited Researchers listed in the top 1% of researchers from across the globe

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UC San Diego researchers expand and deepen understanding of how genetic aberrations fuel human papilloma virus-negative head and neck cancers and, potentially, provide paths to further refinement and improvement of immune checkpoint inhibitors for HPV-negative head and neck cancers.

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Many estimates of how strongly traits and diseases share genetic signals may be inflated, and therefore some genetic correlations that have been attributed to shared biology may instead represent incorrect statistical assumptions.

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The goal of the project is to create a membrane-based downstream purification platform for large-scale continuous biomanufacturing of viral vectors and virus-like particles (VLPs).

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It is difficult to assess brain health status and risk of cognitive impairment, particularly at the initial evaluation. To address this, researchers have developed the Brain Health Platform to quantify brain health and identify Alzheimer’s disease and related disorders.

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The hypothalamus, one of the most complex brain regions in the mammalian nervous system, contains an astonishing heterogeneity of neurons that regulate endocrine, autonomic and behavioral functions.

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TEAMSPORT will create a standardized approach to ordering genomic tests and adapt it for use in community cancer centers, where most cancer patients receive testing and treatment.

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A teaspoon of soil contains billions of viruses and other microorganisms. In this study, scientists examined viruses in soil from Kansas prairies to sequence genetic material, identify viruses’ proteins, and look at how viruses’ activity varied under different environmental conditions. They found that some viruses were more abundant in wet soils, while others were more active.

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Cambridge scientists have used synthetic biology to create artificial enzymes programmed to target the genetic code of SARS-CoV-2 and destroy the virus, an approach that could be used to develop a new generation of antiviral drugs.

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A gene recognized as the strongest risk factor for Alzheimer’s disease (AD) alters the way cholesterol moves around the brain and as we age, this altered movement likely contributes to loss of learning and memory, a team of researchers from the Icahn School of Medicine at Mount Sinai and the Massachusetts Institute of Technology (MIT) reports.

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An international study led by the medical Faculty of the University of Bonn has identified a gene that plays an important role in the development of the human embryo.

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Adopting some of the strategies behind successfully treating the childhood disease spinal muscular atrophy may enable development of therapies to curb the muscle decline that accompanies aging, new research suggests.

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Researchers at the University of Michigan Rogel Cancer Center have identified a novel treatment approach to an aggressive type of pediatric brain cancer, using therapies already approved to treat cancer. The team developed a mouse model of pediatric glioma with a histone mutation called H3.3-G34, which allowed them to study the tumor’s biology in the presence of a functional immune system, revealing a promising outlook for long-term survival.

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New research findings in mouse models of one genetic risk for autism support the idea that loss of a specific gene interferes with cells in the brain whose role is to inhibit signaling.