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Clinical genetics news
New framework boosts the accuracy of disease risk prediction from genetic data
Investigators at Cedars-Sinai Health Sciences University have developed a computational framework to improve how genetic data is used to estimate an individual's inherited risk of developing conditions like Alzheimer's disease, ...
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How losing the 'guardian of the genome' can damage DNA and drive cancer
A new study finds that when p53, one of the most important cancer-protecting genes, stops working, cells produce too much RNA and consume excessive amounts of the building blocks needed to copy their DNA. This shortage disrupts ...
6 hours ago
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Origins of COPD may lie in how some children's lungs develop, but only when they are exposed to polluted air
Chronic obstructive pulmonary disease (COPD) is a serious, incurable lung disease that is common in older people. However, researchers are learning that the origins of the disease may lie decades earlier in how children's ...
Sep 5, 2026
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Sibling data reveal genetic clusters across 22 autoimmune diseases
Autoimmune diseases arise when the immune system mistakenly attacks the body's own tissues. Researchers have long known that these diseases tend to run in families, but the genetic relationships between different autoimmune ...
Sep 4, 2026
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Healthy aging shaped by more varied biology than previously thought
Molecular changes in aging are far more unique than previously thought, meaning two healthy individuals of identical age can experience significantly different aging journeys.
Sep 3, 2026
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Cerebral palsy might be a collection of symptoms, not its own disease
Historically, cerebral palsy (CP) was linked largely to events at birth, including prematurity or temporary loss of oxygen to the brain, but research over the past decade has suggested that genetic factors contribute to CP ...
Sep 3, 2026
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Five subtypes of common liver disease discovered—including rapidly progressing genetic forms
A liver disease affecting nearly 30% of adults worldwide is not a single illness but five biologically distinct subtypes, Mayo Clinic researchers have found. Each carries different risks for heart disease, liver failure, ...
Sep 3, 2026
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How severe illness during pregnancy sometimes alters neurodevelopment
Neurodevelopmental conditions, which include autism spectrum disorder, ADHD (attention-deficit/hyperactivity disorder) and more, affect around 10% of the American population. Despite their prevalence, it has remained difficult ...
Sep 3, 2026
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New disease gene discovery provides answers to families
Ōtākou Whakaihu Waka researchers have helped identify the cause of a previously unrecognized neurodevelopmental disorder. Dr. Meghan Mulligan, of the Department of Biochemistry, says the finding has given people around the ...
Sep 3, 2026
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Alpha-1 antitrypsin deficiency may raise preterm birth risk, genetic analysis suggests
Researchers at the University of Oulu have identified alpha-1 antitrypsin as a potential target for preventing spontaneous preterm birth. In a large genetic study of more than 200,000 mothers, a variant in the SERPINA1 gene, ...
Sep 3, 2026
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Family cancer burden predicts risk in patients with inflammatory bowel disease
People with inflammatory bowel disease (IBD) who have several close relatives with colorectal cancer are significantly more likely to develop the disease themselves. This is demonstrated by a new Swedish registry study from ...
Sep 3, 2026
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Genetics of personality may shape more life outcomes than previously thought
An international consortium of researchers found that more than 1,200 different genetic variants are associated with the Big Five personality traits—and, surprisingly, these personality genetics are linked to dozens of life ...
Sep 2, 2026
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Powerful new tool reveals potential 'goldmine' of cancer targets hidden in 'junk DNA'
A QIMR Berghofer-led team has developed a powerful tool to explore and understand the mysterious workings of the vast region of the human genome once dismissed as "junk DNA," discovering thousands of molecules that could ...
Sep 2, 2026
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Genetic pathway offers new insight into timing of early brain development
Melbourne researchers have uncovered a critical signaling pathway that controls the timing of brain development, shedding new light on how neurodevelopmental disorders may develop. The research, led by Murdoch Children's ...
Sep 2, 2026
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Neuropsychologist finds gaps between treatment and science of ALS, dementia in her own family
For A. Campbell Sullivan, PsyD, this time it's personal. As a neuropsychologist and clinical associate professor of neurology at the Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases at UT Health San Antonio, ...
Sep 2, 2026
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New class of KRAS inhibitors shows promise in shrinking NF1 nerve tumors
A scientist at Cincinnati Children's who has hunted for decades for ways to shrink the painful and disfiguring nerve tumors caused by neurofibromatosis type 1 (NF1) has made a new breakthrough in the quest. Nancy Ratner, ...
Sep 2, 2026
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Dozens of genes tied to OCD and tic disorders discovered
A Rutgers-led international collaboration has identified 36 genes that substantially raise the risk of obsessive-compulsive disorder (OCD) and chronic tic disorders—providing, two researchers said, the most detailed biological ...
Sep 1, 2026
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Targeting protein synthesis control regions may reduce seizures in genetic epilepsy
Targeting the control of protein synthesis in the KCNQ2 gene may serve as a potential disease-modifying strategy for patients with a genetic form of neonatal-onset epilepsy and impaired brain development, according to a Northwestern ...
Aug 31, 2026
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Scientists identify genes that could reduce APOE4 Alzheimer's disease risk
An international team of researchers led by Michael E. Belloy, Ph.D., an assistant professor of neurology and psychiatry at WashU Medicine, identified key genetic targets for developing potential Alzheimer's disease therapeutics. ...
Aug 31, 2026
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Poor diet may worsen genetic causes of male infertility, study finds
Lifestyle factors can worsen the effects of genetic causes of male infertility, finds new research that could help explain why men carrying similar genetic mutations often experience different levels of fertility impairment.
Aug 31, 2026
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Clues to longevity may reside in the genomes of long-lived bats
The secret to a long life may lie in the genomes of the longest-lived mammals for their size: bats. That idea captivated Juan Manuel Vazquez when he was a graduate student at the University of Chicago, but at the time he ...
Aug 30, 2026
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Next-generation RNA approach provides hope for genetic diseases missed by current drugs
Researchers at the University of Toronto have developed a next-generation RNA therapeutic approach with the potential to treat a wide range of genetic diseases that share certain disease-causing mutations. The work advances ...
Aug 27, 2026
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Largest ever molecular map of autism opens new paths to precision therapies
For more than two decades, researchers have identified hundreds of genes that increase the risk of autism spectrum disorder (ASD). Yet multiple fundamental questions have remained unanswered: Among them, how do mutations ...
Aug 27, 2026
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Unexpected discovery reveals mechanism behind brain tumor development
When researchers at Lund University investigated how UM171, a molecule used to make blood stem cells multiply, works, they made an unexpected connection. The results provide new insights into how one of the most common malignant ...
Aug 27, 2026
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More accurate risk assessment developed for Alzheimer's disease among nonwhite patients
Late-onset Alzheimer's disease (AD) is a progressive disorder characterized by cognitive decline and memory impairment, affecting an estimated 6.9 million people in the U.S. The clinical course of AD unfolds over many years, ...
Aug 27, 2026
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