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Clinical genetics news
Gene mutations behind serious bone marrow conditions identified
Inherited bone marrow failure syndrome, or IBMFS, describes a group of disorders in which inherited genetic abnormalities impair the bone marrow's ability to produce sufficient healthy blood cells. Patients with these disorders ...
7 hours ago
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Finding new osteoarthritis medicines via AI and genetics
Osteoarthritis (OA) is a chronic, painful joint disease and a leading cause of disability. Despite its prevalence, therapies for osteoarthritis are limited and focus on symptom management. Now, researchers are combining genetic ...
12 hours ago
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Human genome milestone opens door for personalized genomics
Scientists have reconstructed the complete genome of a real person, with full sets of chromosomes from each parent, a breakthrough expected to advance research, improve the diagnosis of genetic diseases and make personalized ...
16 hours ago
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First complete marmoset genome will enable research on Alzheimer's and neurodegenerative diseases
To study complex diseases like Alzheimer's, scientists and clinicians analyze how genes change and malfunction in other species. Marmosets, a species of tiny monkey from South America, have become an important animal model ...
16 hours ago
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Map of tonsil's genetic 'spaghetti' yields insights into immunity
About 2 meters (6.6 feet) of genetic material must fit into the nucleus of each of most of our trillions of cells, coiling and winding to form what looks like a tangled mess. But when genes are used, how they are used and ...
17 hours ago
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Hidden DNA regulators may drive neurodevelopmental disorders by reducing FOXG1 protein
A new study from the laboratory of Gemma Carvill, Ph.D., associate professor in the Ken and Ruth Davee Department of Neurology's Division of Epilepsy and Clinical Neurophysiology, has uncovered variants in noncoding regulatory ...
10 hours ago
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Testing is underway on vaccines to intercept brewing colon cancer before it takes root
Dr. Stacy Norton was only 7 years old when her mother died of colon cancer, one of several family members struck by aggressive tumors at unusually young ages. Decades later, Norton rolled up her sleeve to help test if a new ...
15 hours ago
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New biobank of tumor models reveals cancers' weak spots
A new open resource of cancer models has enabled researchers to create the first large-scale map of the genes that cancers rely on to survive, offering new avenues for research into better and less toxic treatments for patients.
Aug 5, 2026
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Regular checks sustain high participation for children with inherited cancer risk
Children born with a pathogenic variant in the TP53 gene, known as Li-Fraumeni syndrome, have a markedly increased risk of developing various types of cancer, often at a young age. Therefore, they undergo regular surveillance ...
Aug 5, 2026
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New insights into the evolution of a gene linked to neurodevelopmental conditions
Certain variants in the PSPH gene, which encodes an enzyme called phosphoserine phosphatase, prevent the body from making sufficient amounts of the amino acid L-serine, leading to a range of nervous system problems. New research ...
Aug 5, 2026
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3D genome mapping in rare immune cells reveals new Crohn's disease genes
A new study co-led by professor Valeriya Malysheva, group leader at the VIB-UAntwerp Center for Molecular Neurology, published in Nature Genetics, uncovers how the three-dimensional organization of DNA in rare immune cells ...
Aug 4, 2026
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Researchers uncover hidden mechanism behind congenital heart disease
Congenital heart disease affects approximately two in every 100 newborns globally. But why does it occur? An important part of the answer may lie in a previously unknown mechanism on the surface of our cells. Researchers ...
Aug 4, 2026
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Evolutionary history may help explain why some people develop more severe COVID-19 than others
Every time a virus invades a person, it collides with thousands of years of human history. A study led by researchers at the USC Dornsife College of Letters, Arts and Sciences and Howard University suggests that some of the ...
Aug 4, 2026
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Lower cardiac output predicts faster brain loss in carriers of Alzheimer's disease risk gene
In a longitudinal study conducted at Vanderbilt Health, including investigators from the Vanderbilt Memory and Alzheimer's Center (VMAC), researchers found that lower cardiac output is associated with accelerated cerebral ...
Aug 4, 2026
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Parkinson's gene linked to early dysfunction in brain cells
Northwestern Medicine scientists have uncovered how a major Parkinson's disease gene disrupts the brain's most vulnerable dopamine-producing neurons before detectable neuronal loss. The study offers new clues for developing ...
Aug 3, 2026
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Rare chromosomal differences found in children with fetal alcohol spectrum disorder
One in four children diagnosed with fetal alcohol spectrum disorder was found to have rare chromosomal differences at considerably higher rates than the general population, according to a study published in Alcohol: Clinical ...
Aug 3, 2026
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New insights into genetic architecture of a rare systemic inflammatory disease in East Asian populations
Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic inflammatory disease characterized by eosinophilia, an abnormal increase in eosinophils—a type of white blood cell—and inflammation of small blood vessels ...
Aug 3, 2026
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Somatic mutations linked to vascular damage in progeria
Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder that causes remarkable premature aging. Most patients die during their teenage years from cardiovascular disease, but the precise mechanisms underlying vascular ...
Aug 2, 2026
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X-chromosome inactivation attracts mutations that increase risk of hemophilia and muscular dystrophy
In a study published in the journal Science, researchers in Queensland and the United States discovered that the human X chromosome attracts an unusual kind of DNA mutation, potentially doubling the risk of certain genetic ...
Jul 31, 2026
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Why does an irregular heartbeat show up 40 years early for some people?
An estimated 10 million Americans have atrial fibrillation (AFib), according to the National Institutes of Health's National Heart, Lung, and Blood Institute. AFib is a condition in which the upper chambers of the heart beat ...
Jul 31, 2026
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Newly discovered microprotein linked to type 2 diabetes, shows promise as a precision treatment
A previously unknown microprotein hidden within the human mitochondrial genome may help explain certain forms of type 2 diabetes and could point toward a new precision medicine approach to treating it, according to a new ...
Jul 30, 2026
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Family history raises breast cancer risk even when BRCA testing is negative
Women who test negative for BRCA gene mutations may still be at greater risk of developing breast cancer than the general population, according to a study led by Cedars-Sinai Health Sciences University investigators.
Jul 30, 2026
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New research identifies barriers transgender individuals face related to breast cancer risk
Transgender and gender-diverse (TGD) individuals experience significant health care disparities across the oncology spectrum of care. Systemic barriers, past harmful health care experiences, the sociopolitical climate and ...
Jul 30, 2026
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NPTN gene changes linked to rare developmental disorders in eight children
For some families, the reason their child is not developing as expected remains unclear for a long time. Researchers at the Leibniz Institute for Neurobiology (LIN) in Magdeburg have now identified a genetic cause of a previously ...
Jul 30, 2026
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Gene editing tool reduces Huntington's toxic protein fragments and symptoms in mice
A gene-editing tool designed to precisely rewrite the gene that causes Huntington's disease reduced toxic protein fragments and symptoms associated with the disease in mice, researchers at the University of Illinois Urbana-Champaign ...
Jul 29, 2026
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