Feature Channels: Genetics

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UT Southwestern Medical Center researchers have identified a gene called Lipe that appears to be pivotal to retinal health, with mutations spurring immune activation and retinal degeneration. This is important because the retina is responsible for detecting the light that is transformed into vision. The findings, published in Communications Biology, provide clues about the mechanisms behind a variety of disorders affecting the retina, including macular degeneration and diabetic retinopathy.

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A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.

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In a world first, a ‘biological camera’ bypasses the constraints of current DNA storage methods, harnessing living cells and their inherent biological mechanisms to encode and store data. This represents a significant breakthrough in encoding and storing images directly within DNA, creating a new model for information storage reminiscent of a digital camera.

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A team led by Dr. Miquel Coll at the Institute for Research in Biomedicine (IRB Barcelona) and the Institute of Molecular Biology of Barcelona (IBMB-CSIC), in collaboration with researchers led by Dr. Eric Krukonis at the University of Detroit Mercy in the USA, has revealed the atomic structure of the ToxR protein bound to the DNA of two promoters of the genes that cause the virulence of this bacterium.

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Cancer Disparities: A new African Cancer Genome Registry at Sylvester Comprehensive Cancer Center in Miami seeks to find reasons for higher prostate and breast cancer rates in people of African ancestry. Dr. Sophia George, co-principal investigator, is available for interviews, as are two breast and prostate cancer study participants.

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Scientists at St. Jude Children’s Research Hospital used genomics to inform the creation of genetic and new cell-line models for hepatoblastoma, which pointed toward the DNA damage repair pathway as a promising therapeutic route.

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In a new study, National Institutes of Health (NIH) researchers found that altered B cell function in children with mitochondrial disorders led to a weaker and less diverse antibody response to viral infections.

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A novel molecular pathway to explain how a mutation in the gene ACTA2 can cause individuals in their 30s – with normal cholesterol levels and no other risk factors — to develop coronary artery disease has been identified, according to researchers with UTHealth Houston.

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New AI tool enables in-surgery genomic profiling of gliomas, the most aggressive and most common brain tumors.

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Many Americans can trace some lines of their family tree back to the 1600s. However, African Americans descended from enslaved Africans, who began arriving in North America in 1619, lack ancestral information spanning several centuries.

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The ability of crops to withstand heat is critical to our food system’s resilience to climate change.

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A single-cell study led by MD Anderson researchers and published in Cancer Cell provides a deeper understanding of the evolution of the tumor microenvironment during gastric cancer progression.

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Rutgers Cancer Institute of New Jersey has treated its first patient using genetically modified T-cells that were manufactured in its own state-of-the-art Good Manufacturing Practices (GMP) facility.

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A study using a synthetic ‘minimal cell’ organism stripped down to the 'bare essentials' for life demonstrates the tenacity of organism's power to evolve and adapt, even in the face of an unnatural genome that would seemingly provide little flexibility.

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Enzyme mutations have been of great interest to scientists who study cancer. Scientists in the Liu and Tan labs at UNC’s Lineberger Comprehensive Cancer Center have been studying mutations of enzyme recognition motifs in substrates, which may more faithfully reflect enzyme function with the potential to find new targets or directions for cancer treatment.

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Gene therapy that alters hemoglobin genes may be an answer to curing sickle cell disease and beta thalassemia. Scientists at St. Jude Children’s Research Hospital and the Broad Institute of MIT and Harvard found base editing increased fetal hemoglobin production in a new treatment.

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The study by researchers at New York University, Columbia Engineering, and the New York Genome Center, combines a deep learning model with CRISPR screens to control the expression of human genes in different ways—such as flicking a light switch to shut them off completely or by using a dimmer knob to partially turn down their activity. These precise gene controls could be used to develop new CRISPR-based therapies.

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A study led by researchers at Sanford Burnham Prebys has found that in young women, certain genetic mutations are associated with treatment-resistant breast cancer.

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With aging mitochondria – powerhouses of cells – can lose fragments of their DNA, that leads to different pathologies, especially as far as brain and muscles is concerned.

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A study of more than 22,000 people with multiple sclerosis has discovered the first genetic variant associated with faster disease progression, which can rob patients of their mobility and independence over time.

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Researchers at IRB Barcelona, the University of Barcelona (UB), VIMM, and the University of Padua unveil the key role of Mitofusin 2 cellular makeup in interconnecting organelles within cells. As essential structures with specialized functions, these organelles rely on intricate connections for seamless communication. Among these organelles, mitochondria (known as cell powerhouses) and the endoplasmic reticulum (responsible for protein and lipid synthesis) engage in vital exchanges.

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Cambridge scientists have created a stem cell-derived model of the human embryo in the lab by reprogramming human stem cells. The breakthrough could help research into genetic disorders and in understanding why and how pregnancies fail.

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A consortium of government, industry, and nonprofit partners will fund gene therapy clinical trials for three different rare diseases at UT Southwestern Medical Center and Children’s Health, where scientists are working on gene therapies to treat neurodevelopmental disorders in children.

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University at Albany’s Professor Li Niu has received new funding to support his research investigating new treatments for amyotrophic lateral sclerosis (ALS). The proposed work will build on his lab’s existing research in this area, with a focus on testing RNA aptamers designed to block excessive activity of glutamate receptors, which causes cell death in the spinal cord and brain. The team hopes that their findings will help inform a new and an effective approach to ALS treatment.

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Scientists are discovering that a parent’s experiences can lead to changes in gene expression that are encoded in the sperm or egg and passed to offspring. In other words, there is a way in which offspring inherit the experiences of their parents. This is different than inheriting genes for brown or blue eyes. It’s more like inheriting genes that are switched on or off for the purpose of being better adapted to a particular environment.

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A Mayo Clinic study published in Journal of Translational Medicine evaluated the use of genomic testing broadly for rare diseases.

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Pessoas com obesidade grave e uma variante genética específica correm maior risco de pressão alta, descobriu um estudo da Mayo Clinic.

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Las personas con obesidad severa y una variante genética específica tienen un mayor riesgo de hipertensión, según descubrió un estudio de Mayo Clinic.

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Clinical testing is underway for a potentially groundbreaking new treatment for cystic fibrosis.

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Thor, the legendary Norse god from the mythological city of Asgard, is not alone. According to groundbreaking research published in the journal Nature, we humans — along with eagles, starfish, daisies and every complex organism on Earth — are, in a sense, Asgardians.

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Today, the Abigail Wexner Research Institute at Nationwide Children’s Hospital praised the Food and Drug Administration (FDA) for its accelerated approval of SRP-9001/ELEVIDYS for Duchenne muscular dystrophy (DMD) following decades of research in its Center for Gene Therapy to help patients with neuromuscular diseases.

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Computer scientists at DePaul University applied a bioinformatics workflow to reconstruct one of the most complete genomes of a top cotton species. Experts say the results give scientists a more complete picture of how wild cotton was domesticated over time and may help to strengthen and protect the crop for farmers in the U.S., Africa and beyond.

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A genetic marker discovered by UT Southwestern Medical Center researchers could help physicians predict which patients with hepatocellular carcinoma are most likely to develop resistance to the drug lenvatinib. The finding, published in the journal Gastroenterology, may lead to alternative treatments for the most common form of liver cancer.

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Loss of two key “protector” proteins initiates epigenetic changes that transform healthy lung cells into cancerous ones, according to new research from Van Andel Institute scientists.

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A new tool will enable patients with sickle cell disease to reliably and conveniently monitor their disease in the same way patients with diabetes can monitor their disease using a glucometer. The goal of managing this inherited, lifelong blood disorder is to prevent acute, painful crises due to sickling and unsickling of red blood cells.

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A newly created polygenic scoring system — one that weighs the combined effects of common genetic variants — can improve the ability to predict an individual’s risk of developing ALS, a study shows.

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As men age, some of their cells lose the very thing that makes them biological males—the Y chromosome—and this loss hampers the body’s ability to fight cancer, according to new research from Cedars-Sinai Cancer.

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Irvine, Calif., June 21, 2023 — The process by which aged, or senescent, pigment-making cells in the skin cause significant growth of hair inside skin moles, called nevi, has been identified by a research team led by the University of California, Irvine. The discovery may offer a road map for an entirely new generation of molecular therapies for androgenetic alopecia, a common form of hair loss in both women and men.

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The 2023 Warren Alpert Foundation Prize has been awarded to scientist David J. Lipman for his visionary work in the conception, design, and implementation of computational tools, databases, and infrastructure that transformed the way biological information is analyzed and accessed freely and rapidly around the world.

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A Johns Hopkins Children Center study using medical records from an international registry concludes that female babies with congenital diaphragmatic hernia (CDH) are slightly more likely to die within 30 to 60 days of birth than male babies with the same condition.

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Aleksandra Radenovic, head of the Laboratory of Nanoscale Biology in the School of Engineering, has worked for years to improve nanopore technology, which involves passing a molecule like DNA through a tiny pore in a membrane to measure an ionic current.