Categoría: Noticias
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We may need a new map to properly interpret our genome
Genetic information may play an increasingly important role in the personalized preventive medicine of the future. Whole-genome sequencing could open up new possibilities for identifying susceptibility to and risk of specific diseases even before sympt…
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First single-cell DNA analysis reveals mitochondrial damage in vulnerable Parkinson’s brainstem neurons
Researchers have carried out the first single-cell analysis of mitochondrial DNA in a population of brainstem neurons that are particularly vulnerable to degeneration in Parkinson’s disease.
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IVF-conceived children show more ‘jumping gene’ DNA, study finds
Infertility affects more than 15% of couples worldwide. Thanks to medical science, infertility treatments have come a long way over the past few years. For millions of people, in vitro fertilization (IVF) has opened a medical pathway to having biologic…
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Health records link ADHD to more than fourfold higher risk of later cognitive impairment
A new study led by University of Pittsburgh School of Medicine researchers finds that adults with attention-deficit/hyperactivity disorder (ADHD) face a significantly higher risk of developing dementia or mild cognitive impairment later in life. The re…
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Scientists identify gene signatures in children with severe COVID-19 infection
Researchers have identified patterns of gene activity associated with severe COVID-19 in children that are shared with other serious respiratory infections.
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Abnormal lymph vessels show heightened growth signaling regardless of key gene mutation
Lymphatic malformations are rare disorders in which lymph vessels develop abnormally, often beginning in childhood and sometimes causing swelling, infection, bleeding, pain or airway obstruction.
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Inherited lupus can begin early—and continue silently
A multicenter study led by researchers at Sultan Qaboos University has found that patients with a rare inherited form of lupus may continue to accumulate organ damage even when conventional measures indicate that their disease activity has declined. Ac…
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Unexpected link identified between rare metabolic disease gene and inherited blindness
Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness and a gene known for causing a rare metabolic disorder.
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International study validates less invasive approach to diagnosing mitochondrial disease
Researchers at Children’s Hospital Colorado (Children’s Colorado) and the University of Colorado Anschutz School of Medicine have published one of the largest studies to date evaluating advanced laboratory testing for mitochondrial disease, providing n…
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Brain stimulation timing may shape memory outcomes in Parkinson’s patients with GBA1 mutations
The timing of deep brain stimulation (DBS) surgery is a critical factor in preserving cognitive function for Parkinson’s disease patients with a specific genetic mutation, according to a new study by an international team of researchers.