Study reveals key mechanism driving atherosclerosis in Hutchinson-Gilford progeria syndrome
A team of researchers has made a significant breakthrough in understanding the underlying causes of cardiovascular disease in patients with Hutchinson-Gilford progeria syndrome (HGPS), an ultra-rare genetic disorder that ...
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A histone post-translational modification linked to lifelong susceptibility to stress in mice
Chemical changes to histones, the proteins that help to pack and organize DNA inside cells, play a key role in determining what genes will be consistently activated over the course of an animal or human's life. Past studies ...
PFAS exposure linked to sleep disruptions in young adults
Research led by the Keck School of Medicine of USC has shown that levels of "forever chemicals" in the blood are linked with disruptions to a fundamental pillar of health—sleep.
Oct 4, 2024
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Research points to potential new treatment for aggressive prostate cancer subtype
When researchers at the University of Michigan Rogel Cancer Center first identified a new subtype of aggressive prostate cancer, they knew they needed to understand how this genetic alteration was driving cancer and how to ...
Oct 4, 2024
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Pancreatic cancer tumor map uncovers notable differences between primary and metastatic disease
Indiana University Melvin and Bren Simon Comprehensive Cancer Center researchers have mapped pancreatic cancer tumor ecosystems using tissue from both the primary tumor, which is where cancer first starts to grow in the body, ...
Oct 4, 2024
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Comprehensive mapping of genetic activity brings hope to patients with chronic pain
Researchers at Karolinska Institutet have developed a new comprehensive mapping of genetic activity for understanding the causes of chronic pain. The study, published in Nature Communications, opens the way to more efficient ...
Oct 4, 2024
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Genetic variations in remote UK regions linked to higher disease risk
People from isolated parts of the U.K. could have variations in their genetic code that increase their chance of developing certain diseases, a study suggests.
Oct 4, 2024
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Largest-ever genetic study of epilepsy finds possible therapeutic targets
The largest and most diverse study to date of epilepsy's genetic factors has revealed new potential targets for treatment, both shared by and unique to different subtypes of epilepsy. The findings point to factors involved ...
Oct 3, 2024
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Live-cell model system can decode genetic risk for psychiatric disorders
For many years, scientists have known that genetic variants, or differences in DNA code across people, play some role in neurological and psychiatric disorders. But the details were murky. Now, researchers at the UNC School ...
Oct 3, 2024
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New genomic surveillance tools could help efforts to eliminate damaging parasitic infections
Researchers at Washington University School of Medicine in St. Louis have developed a new genomic-based approach that could aid global efforts to eliminate lymphatic filariasis, a parasitic roundworm infection spread by mosquitos. ...
Oct 3, 2024
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Scientists decode key mutation in many cancers, pointing to expanded role of RNA in human gene expression
Inside every cell, inside every nucleus, your continued existence depends on an incredibly complicated dance. Proteins are constantly wrapping and unwrapping DNA, and even minor missteps can lead to cancer. A new study from ...
Oct 2, 2024
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Study reveals molecular mechanism of genetic variant that causes mirror movement disorder
A team of Canadian and American scientists has made a promising breakthrough in understanding the origins of a mysterious neurological disorder known as mirror movements.
Oct 2, 2024
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Researchers develop insights into KRAS mutations in pancreatic cancers
A common mutation in the KRAS gene is associated with improved overall survival in pancreatic ductal adenocarcinoma (PDAC) compared with other variants, in part because the mutation appears to lead to less invasiveness and ...
Oct 2, 2024
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Scientists uncover genetic cause of rare autoimmune disorder
A team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, according to a study recently published in Science Translational Medicine.
Oct 2, 2024
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Study reveals key role of TRIO gene in epileptic encephalopathies
What are the molecular and cellular mechanisms by which some babies develop epileptic encephalopathies and autism spectrum disorder? That's what researchers in Canada and France set out to uncover—and they think they've ...
Oct 2, 2024
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New genetic testing pathways could ensure patients get personalized BRCA-linked cancer treatments
Scientists have developed a new clinical pathway for testing for the cancer-causing faults in the BRCA gene that could ensure patients get the right treatment and boost the number of people who get tested.
Oct 2, 2024
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Cutting corners results in rare genetic diseases being undiagnosed, say scientists
Inaccurate naming of genetic diseases is resulting in some rare genetic diseases needlessly being undiagnosed, University of Manchester scientists warn. A Nature Genetics communication paper, published today adds to existing ...
Oct 2, 2024
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Unveiling genetic insights: How PAI-1 polymorphisms influence COVID-19 outcomes
Despite global vaccination efforts, COVID-19 continues to pose significant risks, leading to severe complications and fatalities. These risks are driven by disrupted coagulation, impaired fibrinolysis, which is the process ...
Oct 2, 2024
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Gene activation linked to severity of a rare lung cancer
Pulmonary carcinoids are rare tumors of the lung with extremely different clinical courses. In many patients, they behave like benign tumors; surgical removal of the tumor leads to a complete cure. However, some patients ...
Oct 2, 2024
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Research explores genetic treatment for rare arrhythmias
Variants in a gene that plays a key role in heart function can cause potentially life-threatening arrhythmia syndromes known as calmodulinopathy.
Oct 2, 2024
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Hereditary colorectal cancer: Researchers reclassify a large proportion of leading gene variants as benign
The genetic confirmation of a suspected diagnosis of hereditary colorectal cancer is of great importance for the medical care of affected families. However, many of the variants identified in the known genes cannot yet be ...
Oct 1, 2024
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Bioinformatics techniques uncover hidden prevalence of repeat expansion disorders
Research led by scientists at Queen Mary University of London is signaling a new era for genetic sequencing and testing. In the largest study of its kind to date, published today in Nature Medicine, an international group ...
Oct 1, 2024
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Categorizing the epigenetic hallmarks that define cancer
Cancer mortality has just surpassed cardiovascular disease for the first time ever and one in two men, and one in three women, will be diagnosed with some form of the disease in the US, according to the NIH.
Oct 1, 2024
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