New study links common DNA differences to unexplained rare neurodevelopmental conditions
The combination of common DNA differences can help explain why some people have a rare neurodevelopmental brain condition without a specific, single genetic mutation causing it.
10 hours ago
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New barcode technology could help diagnose cancer more precisely
A new pathology tool created at Yale harnesses barcode technology and shows potential for use in cancer diagnoses. The technology, Patho-DBiT (pathology-compatible deterministic barcoding in tissue), was discussed in a new ...
11 hours ago
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Enzyme study unveils key strategies against drug-resistant prostate cancer
An enzyme called EZH2 has an unexpected role in driving aggressive tumor growth in treatment-resistant prostate cancers, according to a new study by scientists at Weill Cornell Medicine.
13 hours ago
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Cancer-like mutations in healthy cells point to genetic origins of breast cancer
Researchers at the University of British Columbia (UBC), BC Cancer, Harvard Medical School and Memorial Sloan Kettering Cancer Center (MSK) have pinpointed what could be the early genetic origins of breast cancer—cancer-like ...
14 hours ago
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Major genetic defect linked to female infertility identified
Up to 15% of all couples suffer from infertility at some point in their lives. Lack of knowledge about the causes of fertility problems can lead to prolonged clinical testing and extended treatment periods.
8 hours ago
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Early skeleton map reveals how bones form in humans
The first "blueprint" of human skeletal development reveals how the skeleton forms, shedding light on the process of arthritis, and highlighting cells involved in conditions that affect skull and bone growth.
14 hours ago
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Study links rare genetic mutation to severe neurological disorder
A recent study has uncovered the intricate ways in which a rare genetic mutation impacts brain cell communication, providing critical insights into the causes of a severe neurological disorder known as developmental and epileptic ...
8 hours ago
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Mapping of atherosclerotic plaque cells may predict future risk of stroke or heart attack
In a new study published in the European Heart Journal, researchers at Karolinska Institutet show that genetic traits influence the cellular composition of atherosclerotic plaques, which over time will affect the risk of ...
13 hours ago
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War may cause adverse biological changes in children and slow development, research finds
Children living in war-torn countries not only suffer from poor mental health outcomes, but war may cause adverse biological changes at the DNA level, which could have lifelong health impacts, according to a study from the ...
14 hours ago
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Molecular detection method tracks outbreak of drug-resistant fungi
Candida parapsilosis is a yeast fungus that can colonize the skin and digestive tract of humans and is usually harmless. However, it can cause severe wound and tissue infections, including life-threatening septicemia, in ...
Nov 19, 2024
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How colliding genetic processes drive aggressive cancers
Cancer researchers at the University of Chicago and the University of California, San Francisco (UCSF) have discovered that mutations in certain genes can lead to the accumulation of DNA errors, resulting in a specific type ...
Nov 19, 2024
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New potential cancer-driving genes identified, opening new paths for precision treatments
Researchers have carried out an in-depth analysis of 10,478 cancer genomes across 35 different cancer types, identifying 330 potential cancer-driving genes, 74 of which are newly associated with cancer. The findings highlight ...
Nov 19, 2024
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Clinical trial finds new gene editing therapy for heart condition to be safe and effective
A new type of therapy that "edits" a gene in patients with a rare heart condition has been shown to be safe and effective, according to research from UCL and the Royal Free Hospital.
Nov 19, 2024
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Promising results from phase 1 gene therapy trial for Danon disease
Researchers at Children's Hospital of Philadelphia (CHOP) announced encouraging results from the first ever gene therapy trial for Danon disease (DD), a rare, X-linked heart condition caused by a single gene mutation. The ...
Nov 19, 2024
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How the environment is silently shaping cancer risk: Data helps untangle links between pollution and cancer
Cancer occurs when genetic changes disrupt normal cell functions. These genetic mutations can be inherited; they can happen spontaneously when cells make copies of themselves; or they can be caused by environmental carcinogens—chemicals ...
Nov 19, 2024
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A new strategy to enhance gene therapy for sickle cell disease
Researchers described a promising new approach for using gene therapy to treat sickle cell disease in the journal Human Gene Therapy. To improve the efficacy of gene therapy when using anti-sickling beta globin gene transfer, ...
Nov 19, 2024
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Discovery of new genes for molar pregnancies sheds light on their increased incidence in women aged 35 and over
A molar pregnancy, also known as a hydatidiform mole, is an abnormal human pregnancy with no embryo and an overgrowth of the cells that form the placenta. The common form of molar pregnancy affects one in every 600 pregnancies ...
Nov 18, 2024
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Jumping genes for early detection of gastric cancer
Gastric cancer (GC) is a lethal malignancy with worldwide occurrence, and is considered endemic in eastern Asian, eastern European and South American countries. Indeed, in my home country, Chile, GC is the leading cause of ...
Research targets DNA repair vulnerabilities in female reproductive cancers
Each cell in our body experiences up to tens of thousands of DNA-damaging events per day, primarily from routine cellular maintenance or exposure to toxins in our environment. Despite the high frequency of wear-and-tear, ...
Nov 18, 2024
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The inconsistencies of genetic markers for predicting heart disease
Polygenic risk scores (PRSs) are a cutting-edge tool in genetics, combining information from genetic markers across the genome to estimate a person's risk of developing certain diseases, such as coronary artery disease (CAD). ...
Nov 18, 2024
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Scientists uncover new biallelic repeat expansion leading to mitochondrial encephalopathy
Mitochondrial diseases are among the most prevalent hereditary metabolic disorders, known to occur in 1 out of every 5,000 births. Single nucleotide variations, indels, and structural variations are known to cause these disorders.
Nov 18, 2024
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New resource maps gene-disease links across common conditions, paving the way for personalized medicine
A new study introduces an innovative tool for exploring gene-disease connections: the PWAS Hub. This resource is based on the novel approach of the proteome-wide association study (PWAS), which complements traditional genetic ...
Nov 18, 2024
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Large cohort study builds pregnancy health atlas for phenotype-omics research in China
A new pregnancy health cohort study involving over 20,000 families has identified common complications, high-risk groups, and geographical trends through biological samples collected across China.
Nov 18, 2024
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