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Clinical genetics news
DeepRare AI outperforms doctors on rare disease diagnosis in head-to-head test
Rare diseases are complex medical disorders that are notoriously difficult to diagnose because many present with a wide variety of symptoms that can overlap with more common illnesses. Currently, around 300 million people ...
19 hours ago
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AI tool debuts with better genomic predictions and explanations
Artificial intelligence has taken the world by storm. In biology, AI tools called deep neural networks (DNNs) have proven invaluable for predicting the results of genomic experiments. Their usefulness has these tools poised ...
14 hours ago
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Household cat could hold the key to understanding breast cancer
The first study of multiple cancer types in cats has identified genetic changes that could help treat the condition in humans and animals. By analyzing different types of tumors from almost 500 pet cats across five countries, ...
18 hours ago
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New method estimates Epstein-Barr virus in blood using standard genome sequencing data
The Epstein-Barr virus (EBV) can cause certain types of cancer or autoimmune diseases, but how the body controls this common viral infection is largely unknown. Researchers at the University Hospital Bonn (UKB) and the University ...
18 hours ago
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Researchers drill down on genetic profiles to guide treatment for leukemia patients
Cancer researchers are making strides in efforts to use genetic profiling to develop a more precise understanding of the response to treatment of acute myeloid leukemia (AML), a rare but aggressive blood cancer.
15 hours ago
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Urine DNA test may spot Lynch syndrome urinary cancers before symptoms
A pioneering genetic test is improving early diagnosis and treatment for people with hereditary cancer caused by a genetic condition. The test, developed with the help of Newcastle University scientists, identifies specific ...
20 hours ago
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Telehealth genetic services increase uptake of counseling in childhood cancer survivors
For childhood cancer survivors, remote telehealth genetic services improve genetic counseling and testing uptake, according to a study published online Feb. 13 in The Lancet Regional Health—Americas.
14 hours ago
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A genetic brake that forms our muscles: Variant linked to endurance may also raise odds of injury
In an international study, researchers at Lund University in Sweden have identified a gene variant that controls the body's capability to form new blood vessels in muscles—a mechanism that affects physical performance, ...
Feb 18, 2026
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Big data and human height: Scientists develop algorithm to boost biobank data retrieval and analysis
Extracting and analyzing relevant medical information from large-scale databases such as biobanks poses considerable challenges. To exploit such "big data," attempts have focused on large sampling algorithms that model individual ...
Feb 18, 2026
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Study splits schizophrenia genetic risk into two pathways, one shared with bipolar disorder
A new study by researchers at King's College London has split schizophrenia risk into two genetically distinct pathways. One is characterized by a shared genetic risk with bipolar disorder and associated with higher educational ...
Feb 18, 2026
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How age, sex and genetics shape our antibodies
Age, biological sex, and human genetic factors influence the production of antibodies during the immune response. A team of scientists from the Institut Pasteur, the CNRS and the Collège de France have shown that these factors ...
Feb 18, 2026
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Aortic stenosis: 200 newly identified genes raise hope for future treatments
A new study on aortic stenosis, the most common form of heart valve disease, has identified more than 200 new genes that predispose individuals to this condition, for which no treatment currently exists. The discovery of ...
Feb 18, 2026
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Largest study of rare skin cancer in Mexican patients shows that it is more complex than previously thought
Genetic ancestry may play a key role in how acral melanoma, a rare and aggressive type of skin cancer, develops and behaves, with important implications for diagnosis and treatment, according to researchers at the Wellcome ...
Feb 18, 2026
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KRAS mutation type may guide more effective cancer treatments
KRAS is the most frequently mutated oncogene across all human cancers. Although different KRAS mutations have long been thought to exert the same cancer-driving effects, a new study led by UT Southwestern Medical Center researchers ...
Feb 18, 2026
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Huntington's disease offers a rare clean test case for brain research
Neuroscience rarely enjoys clean experiments. Most brain disorders are mosaics of risk genes, aging, lifestyle and chance that leave their origins obscured. Huntington's disease (HD) is different. It begins with a single ...
Feb 18, 2026
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Disease patterns found to vary with genetic ancestry for Hispanic patients with IBD
Hispanic patients with inflammatory bowel disease (IBD) have varying disease patterns depending on their genetic ancestry, according to a study published online Feb. 9 in Gastroenterology.
Feb 18, 2026
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Nanoparticle-based gene editing could expand treatment options for cystic fibrosis
UCLA researchers have developed a lipid nanoparticle-based gene-editing approach capable of inserting an entire healthy gene into human airway cells, restoring key biological function in a laboratory model of cystic fibrosis ...
Feb 17, 2026
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Childhood disadvantage can block the benefits of genetic potential, study finds
New research from the University of Bath's School of Management shows that a genetic predisposition for success can be derailed by childhood adversity, shifting focus from long-term goals to immediate survival, creating hidden ...
Feb 17, 2026
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Connecting the dots between cause-effect events in Alzheimer's disease
A study published in Molecular Psychiatry reveals a path of cause-effect molecular events that can lead to Alzheimer's disease (AD). Researchers at Baylor College of Medicine, Duncan Neurological Research Institute (Duncan ...
Feb 16, 2026
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Studies show 11 genetic variants affect gut microbiome
In two new studies on 28,000 individuals, researchers are able to show that genetic variants in 11 regions of the human genome have a clear influence on which bacteria are in the gut and what they do there. Only two genetic ...
Feb 16, 2026
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Helping mothers with epilepsy take life-saving medication without fear of birth defects
Scientists are moving toward a genetic test that could help thousands of mothers with epilepsy safely take life-saving medication without fear of it causing birth defects in their children.
Feb 16, 2026
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RNA is key to the dark matter of the genome. Scientists are sequencing it to illuminate human health and disease
Although there are striking differences between the cells that make up your eyes, kidneys, brain and toes, the DNA blueprint for these cells is essentially the same. Where do those differences come from?
Feb 15, 2026
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Want a tall, smart child? How IVF tests are selling a dream
Prospective parents are being marketed genetic tests that claim to predict which IVF embryo will grow into the tallest, smartest or healthiest child. But these tests cannot deliver what they promise. The benefits are likely ...
Feb 14, 2026
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False alarm in newborn screening: How zebrafish can prevent unnecessary spinal muscular atrophy therapies
A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research findings from Germany ...
Feb 13, 2026
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Men lose their Y chromosome as they age: Scientists thought it didn't matter—but now we're learning more
Men tend to lose the Y chromosome from their cells as they age. But because the Y bears few genes other than for male determination, it was thought this loss would not affect health. But evidence has mounted over the past ...
Feb 13, 2026
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