Feature Channels: Genetics

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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.

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Danny Reinberg, Ph.D., one of the world’s foremost biochemists, is joining Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine, bringing decades of ground-breaking research in genetics, epigenetics and cellular processes.

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Scientists at City of Hope have developed universal donor stem cells that could one day provide lifesaving therapy to children with lethal brain conditions, such as Canavan disease, as well as to people with other degenerative diseases, such as Alzheimer’s and multiple sclerosis.

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A team of scientists – including UC Irvine’s Distinguished Professor of Ecology & Evolutionary Biology Brandon Gaut and UC Davis’ Professors of Viticulture & Enology Dario Cantù and Andy Walker – has made a significant breakthrough in the battle against a devastating disease affecting grapevines.

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UC San Diego scientists discover shattered chromosomal fragments are tethered together during cell division before being rearranged; destroying the tether may help prevent cancerous mutations.

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Researchers at Washington University School of Medicine in St. Louis have developed an approach that could help doctors distinguish between the many subtypes of limb girdle muscular dystrophy, a rare, genetic muscle disease. With new therapies poised to enter the clinic, identifying the precise subtype is necessary to ensure that people get access to the treatment most likely to benefit them.

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Researchers from the Perelman School of Medicine at the University of Pennsylvania have invented a new way to map specific DNA markings called 5-methylcytosine (5mC) which regulate gene expression and have key roles in health and disease. The innovative technique allows for scientists to profile DNA using very small samples and without damaging the sample which means it can potentially be used in liquid biopsies (testing for cancer markers in the bloodstream) and early cancer detection.

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New research is bolstering scientific understanding behind why some people are more prone to allergies than others. Researchers in the Perelman School of Medicine at the University of Pennsylvania identified how genetic differences that alter a specific protein called ETS1 can affect our body's response to allergies. They found that small changes in ETS1 in an animal model can lead to an increased likelihood for allergic reactions that cause inflammation. The findings were published recently in Immunity.

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Hackensack Meridian Neuroscience Institute at Jersey Shore University Medical Center’s ALS Center is the first in New Jersey to provide patients with QALSODY™ (tofersen), the first treatment to target a genetic cause of the disease. The U.S. Food and Drug Administration (FDA) approved the QALSODY (tofersen) injection in April 2023, for the treatment of amyotrophic lateral sclerosis (ALS) in adults who have a mutation in the superoxide dismutase 1 (SOD1) gene.

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A new paper in Molecular Biology and Evolution, published by Oxford University Press, shows that a condition known as Dupuytren's disease is partly of Neandertal origin.

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Scientific discoveries on Hereditary Cancer Syndromes have evolved in recent years, with advances in understanding the genetic basis of various tumors and the biological underpinnings of inherited cancer syndromes.

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In a recent article published in the journal Nature Communications, Binghamton University Assistant Professor of Biological Sciences Adam Session and Daniel S. Rokhsar, a professor of genetics, evolution and development at the University of California, Berkeley, outline a way to trace these genomes back to the polypoid hybrid’s parent species.

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The Association for Molecular Pathology (AMP) today awarded Xavier Becerra, US Secretary of the Department of Health and Human Services, with its Champion for Innovation Award. Secretary Becerra was recognized for his 30-year career in public service and his ongoing commitment to protecting patient access to high-quality, affordable care. The award presentations coincides with the 10th anniversary of the Supreme Court’s landmark decision invalidating gene patents in Association for Molecular Pathology et al. v. Myriad Genetics, Inc. et al.

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Genetic variation is the ultimate fuel for evolution, says Utah State University evolutionary geneticist Zachariah Gompert. But, over centuries, that fuel reservoir gets depleted in the course of natural selection and random genetic drift.

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Miscanthus thrives on marginal lands with limited fertilization and tolerates drought and cool temperatures, making it an ideal bioenergy candidate. Previous efforts to genetically improve miscanthus focused on introducing external genes at random places in the plant’s genomes. This research developed gene-editing procedures using CRISPR/Cas9 that will allow scientists to selectively target existing genes to knock out their function and introduce new genes into precise locations.

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In a recent study published in the journal Biology Letters, a female crocodile living in isolation for 16 years at a Costa Rican zoo laid a clutch of eggs, a common practice among captive reptiles, even those without mates. After three months of incubation, one egg contained "a fully formed stillborn baby crocodile," a team of scientists found.