Using AI to improve diagnosis of rare genetic disorders
Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The ...
20 hours ago
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Researchers publish final results of key clinical trial for gene therapy for sickle cell disease
In a landmark study, an international consortium led by researchers at Children's Hospital of Philadelphia (CHOP) published the final results of a key clinical trial of the gene therapy CASGEVY (exagamglogene autotemcel) ...
20 hours ago
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Study uncovers drug target in a protein complex required for activation of NF-κB
A new paper by Dana-Farber Cancer Institute scientists lays the foundation for targeted therapies to inhibit the activation of nuclear factor kappa B (NF-κB), a transcription factor that plays a role in various autoimmune ...
14 hours ago
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Genetic variations may predispose people to Parkinson's disease following long-term pesticide exposure, study finds
A new UCLA Health study has found that certain genetic variants could help explain how long-term pesticide exposure could increase the risk of Parkinson's disease.
Apr 25, 2024
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Experts call for global genetic warning system to combat the next pandemic and antimicrobial resistance
The COVID-19 pandemic turned the world upside down. In fighting it, one of our most important weapons was genomic surveillance, based on whole genome sequencing, which collects all the genetic data of a given microorganism. ...
Apr 25, 2024
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Genetic association study opens up new treatment avenues for Pick's disease, a rare form of early-onset dementia
Pick's disease, a neurodegenerative disease of unknown genetic origin, is a rare type of frontotemporal dementia that affects people under the age of 65. The condition causes changes in personality, behavior and sometimes ...
Apr 24, 2024
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Immune cells on standby are constantly stimulated by healthy tissue, new study finds
When pathogens invade the body, the immune system must react immediately to prevent or contain an infection. But how do our defense cells stay ready when no attacker is in sight?
Apr 24, 2024
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Researchers identify novel gene networks associated with aggressive type of breast cancer
Breast cancer is the second-most common cancer diagnosis for U.S. women, and the second-leading cause of female cancer deaths. In recent years, breast cancer treatments have improved significantly, thanks to targeted gene ...
Apr 24, 2024
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Genetics predict type 2 diabetes risk and disparities in childhood cancer survivors
Survivors of childhood cancer are at increased risk for cardiovascular disease, for which a risk factor is their greater prevalence of type 2 diabetes, with a disproportionate impact on those of non-European heritage. St. ...
Apr 24, 2024
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Discovering cancers of epigenetic origin without DNA mutation
A research team including scientists from the CNRS has discovered that cancer, one of the leading causes of death worldwide, can be caused entirely by epigenetic changes, in other words, changes that contribute to how gene ...
Apr 24, 2024
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Researchers uncover SNUPN gene responsible for a new muscular disorder
A study, published in Nature Communications, sheds light on a newly identified subtype of muscular dystrophy, revealing an unsuspected role of SNUPN gene in muscle cell function.
Apr 24, 2024
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Study reviews the role of a ribonucleic acid 'MALAT1' in hematological malignancies
Long non-coding ribonucleic acids (lncRNAs), despite not coding for any protein, can play a significant role in cancer formation, progression, and treatment outcomes. One such lncRNA of interest is MALAT1, abbreviated for ...
Apr 24, 2024
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Study reveals insights into DDX41 protein's role in blood cancer pathogenesis
A study led by Professors Hongtae Kim and JaYil Lee from the Department of Biological Sciences, in collaboration with researchers from the Catholic University of Korea, sheds light on the pivotal role of mutated DDX41 protein ...
Apr 23, 2024
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Liver cancer: Molecular signaling pathway of tumor development decoded
As a malignant disease of the liver cells, hepatocellular carcinoma (HCC) is one of the main causes of cancer-related deaths. While the treatment options for this aggressive type of cancer remain limited, the incidence is ...
Apr 23, 2024
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What you eat could alter your unborn children and grandchildren's genes and health outcomes
Within the last century, researchers' understanding of genetics has undergone a profound transformation.
Apr 23, 2024
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Mosaics of predisposition found to cause skin disease
Clarifying the cause of a skin disease had led to the discovery of a new disease-causing gene, a new category of diseases, and new perspectives for both counseling and therapy. The discovery is the first time that epigenetic ...
Apr 22, 2024
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New gene therapy for metachromatic leukodystrophy proves effective in mice
Metachromatic leukodystrophy is a rare genetic disorder that mainly affects young children and results in severe neurological symptoms accompanied by a loss of motor and intellectual capacities. At Paris Brain Institute, ...
Apr 22, 2024
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Researchers identify abrupt epigenetic aging of the colon
DNA methylation data provide extremely accurate age predictors, but so far, little is known about the dynamics of this epigenomic biomarker over the course of life.
Apr 22, 2024
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