Categoría: Noticias
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Tapping your genome with AI and quantum computing could deliver on the promise of personalized medicine
Decades after researchers first sequenced the human genome, scientists throughout the world are still working to understand it. Despite diligent global efforts to link uncommon variations in DNA sequences with human disease, progress has been slow, in …
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Study identifies new treatment targets for vascular dementia
A new study led by researchers at UNSW Sydney’s Center for Healthy Brain Aging (CHeBA) has identified potential biological targets that could help guide future research into treatments for vascular dementia—a common and serious yet currently untreatabl…
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Rare bone disease mutation linked to kidney failure pathway, mouse study shows
Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO), a rare hereditary disorder that frequently results in renal failure. Using a mouse model, they demonstrated that MCTO is caus…
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Antisense oligonucleotide strategy reverses HNRNPH2-related neurodevelopmental disorder
Scientists at St. Jude Children’s Research Hospital have found that they can reverse the effects of HNRNPH2-related neurodevelopmental disorder using antisense oligonucleotides (ASOs) in preclinical models. ASOs are short synthetic nucleic acid strands…
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Postmenopausal white women with genetic risk regain weight two times faster
In a new study of women in post-menopause, white women with higher genetic risk of obesity regained weight about two times faster than white women whose genetic risk was lower. Black women in the study regained weight at a similar rate, regardless of t…
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Epigenome map reveals how blood sugar-regulating cells change in type 2 diabetes
Researchers at Lund University in Sweden have carried out the most detailed mapping to date of the epigenome in the cells that regulate the body’s blood sugar levels. The study, published in Nature Metabolism, shows how chemical changes to DNA affect b…
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Gene therapy targets untreatable cystic fibrosis mutation affecting about 10% of patients
Cystic fibrosis is among the most common, known and studied genetic diseases. It affects over 100,000 people worldwide and reduces life expectancy mainly as it causes lung and respiratory problems. Over the years, scientific research has led to the dev…
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Genetic study reveals likely cause of common heart valve defect
New clues from genetic research may help explain what causes the most common heart defect present at birth. Researchers at KTH Royal Institute of Technology and Karolinska Institutet have identified rare DNA changes during fetal development that can le…
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Novel tool more accurately predicts risk of Li-Fraumeni syndrome
In a prospective validation study, researchers at The University of Texas MD Anderson Cancer Center have demonstrated that a new mathematical model called LFSPRO was effective in supporting genetic counselor decision-making and more accurately predicte…
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Uncovering hidden genetic risks for early-onset and familial colorectal cancer
Researchers and clinicians from National Taiwan University (NTU) and NTU Hospital have compiled the first large-scale genetic database for colorectal cancer (CRC) in Taiwan. This initiative identified inherited genetic abnormalities specifically linked…