Categoría: MedicalXPress
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Study reveals crucial ‘housekeeping’ genetic elements and their potential to fight cancer
Technological advancements have enabled scientists to comprehensively explore genetic control elements, unraveling the complexities of gene activation mechanisms in our genetic code. New evidence challenges the simplistic view that cis-regulatory elements (CREs) are mere on/off switches for genes, emphasizing their ability to exhibit complex behaviors, such as the simultaneous enhancement of gene activity and initiation…
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A leap forward in women’s health: Unlocking genetic clues to gestational diabetes
A new study led by researchers from the University of Helsinki, along with colleagues at the Massachusetts General Hospital and Broad Institute of Harvard and MIT, provides significant breakthroughs in our understanding of the genetics behind gestational diabetes. Gestational diabetes is a common pregnancy disorder annually affecting more than 16 million pregnancies worldwide, with substantial health implications…
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Variants in synaptic scaffolding protein PPFIA3 discovered to cause new syndromic neurodevelopmental disorder
An international collaborative study has recently discovered that variants in the PPFIA3 gene cause a previously unknown syndromic neurodevelopmental disorder. The study was published in the American Journal of Human Genetics. The research was led by postdoctoral scientist Dr. Maimuna Paul and child neurologist Dr. Hsiao-Tuan Chao, an assistant professor at Baylor College, a faculty member with the…
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Understanding the role of a new enzyme in the development of autism spectrum disorder
Over the past decades, scientists have made substantial progress unveiling the underlying mechanisms behind many psychiatric disorders. Every year, new genetic mutations or protein dysregulations are identified as potential culprits for the symptoms and sometimes even the root causes of complex neurological diseases, including autism spectrum disorder (ASD), schizophrenia, and Alzheimer’s. Despite these efforts, the…
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Proof-of-concept study presents a blood test that can identify genetic diseases in fetuses
JANUARY 4, 2024 Editors’ notes Proof-of-concept study presents a blood test that can identify genetic diseases in fetuses by University of Southern Denmark A research team from Odense University Hospital and the University of Southern Denmark has developed an innovative screening test. With a blood sample from the expectant mother, they can scrutinize all the genes…
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Researchers uncover unexpected molecular pattern in fragile X syndrome
DECEMBER 27, 2023 by Perelman School of Medicine at the University of Pennsylvania Researchers have found new disrupted genes and an unexpected molecular pattern—dubbed BREACHes—related to fragile X syndrome (FXS), a genetic disorder estimated by the Centers for Disease Control and Prevention to impact about 1 in 7,000 males about 1 in 11,000 females. The study, by researchers…
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A study of genetics of pericarditis increases understanding of newly approved drug treatment
Sequence variants that protect against pericarditis have been discovered at a genomic locus encoding interleukin-1 immune cytokines. A newly approved drug treatment for pericarditis inhibits these cytokines, according to a new study. The article, titled «Variants at the interleukin-1 gene locus and pericarditis,» was published today (Dec. 27) in JAMA Cardiology by scientists at deCODE genetics, a…
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Unraveling the mystery of hereditary diffuse gastric cancer
Gastric cancer, a significant global health burden, claims more than 7% of cancer-related deaths annually. Although only 1%–3% of cases have a genetic basis, understanding these genetic drivers is crucial for developing preventative strategies. Gastric cancer, a formidable foe in the global health arena, casts a long shadow over millions of lives each year. While…
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Revealing how an ancient genetic invader inhabits our DNA
Billions of years ago, as primitive lifeforms were becoming more complex, a selfish genetic component became a sort of genome colonizer. Using a copy-and-paste mechanism, this pernicious bit of code replicated and inserted itself again and again into a variety of genomes. Over time, all eukaryotic organisms inherited the code—including us. In fact, this ancient…