Categoría: Noticias
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Subtype-specific mutations drive relapse risk in most common childhood leukemia
Some cases of the most common childhood cancer, B-cell acute lymphoblastic leukemia (B-ALL), return after treatment—and genetic changes present from the start may help explain why. Scientists at St. Jude Children’s Research Hospital and Seattle Childre…
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Researchers identify connection between pulmonary hypertension and cognitive impairment
University of Pittsburgh and UPMC researcher-clinicians have uncovered why many pulmonary hypertension patients report symptoms of cognitive decline.
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Genetic testing may help identify inherited blood disorder carrier status earlier
Mayo Clinic researchers have found that genetic testing can help identify people who carry inherited blood disorder traits, including individuals who may not otherwise know their carrier status. Earlier identification can create opportunities for genet…
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Halting muscular dystrophy with a ‘backup’ protein
A new use of CRISPR gene editing has halted and even reversed the progression of a model of Duchenne muscular dystrophy, according to work led by scientists at the Perelman School of Medicine. The technique boosted a protein, utrophin, as a stand-in to…
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Large-scale genetic study on Alzheimer’s identifies new DNA risks
A large-scale international study offers new insights for understanding Alzheimer’s disease and developing future treatments. The University of Exeter–led PROTECT study was part of the research, led by Vrije Universiteit Amsterdam and published in Natu…
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Unifying mechanism explains how common cancer mutations fuel growth
A family of mutations seen in about 20% of human cancers drives malignancy by changing the accessibility of genes to a particular regulatory protein, according to a study by Weill Cornell Medicine investigators. The findings suggest new therapeutic str…
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Three studies reveal the hidden layers between DNA and disease
In three studies published in Nature today, Australian researchers have made advances in our understanding of how genetic differences between people influence disease. The team from the Garvan Institute of Medical Research, in collaboration with the Mu…
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Abnormal neurons are surprisingly common in the developing brain
During fetal development, the human brain generates an excess of neurons, most of which are eliminated shortly before and after birth. New research from Harvard Medical School and Boston Children’s Hospital suggests that this is a critical quality-cont…
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Switching on healthy silent genes reveals new way to treat Prader-Willi syndrome
WEHI researchers have discovered a way to release a genetic ‘brake’ that silences healthy genes in Prader-Willi syndrome, opening a potential new path to treating the condition.
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Rare gene variants linked to dental differences that shape our smiles
Rare variants in a gene involved in early development have been linked to a range of dental differences in people, including missing teeth, unusual tooth shapes and teeth present at birth. By studying changes in the same gene in mice and chickens, rese…