Categoría: Noticias
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Gene’s role in attaining and maintaining muscle mass revealed in new study
New research from Northwestern University has uncovered a previously unexplored relationship between a gene critical to immune cells and the establishment and maintenance of skeletal muscle mass and strength in mice. The BCL6 gene has been known to play a key role in the function of immune cells and the body’s inflammatory response. For decades, scientists have…
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Web-based resource provides precise classification of dual genome variants of primary mitochondrial disease
A multi-institutional team of researchers led by teams at Children’s Hospital Los Angeles and Children’s Hospital of Philadelphia (CHOP) has developed a user-friendly, web-based genomic dataset analysis platform to help researchers more easily identify likely disease-causing gene variants in patients with suspected mitochondrial disease. The findings were recently published online by the journal Current Protocols. While…
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New assay identifies clinically relevant gene fusions in pediatric tumors more accurately and efficiently
Identification of specific gene fusions is critical for the successful targeted treatment of pediatric cancer patients. Researchers at Children’s Hospital Los Angeles have developed a novel assay that automatically integrates the data from multiple fusion identification tools (callers) and efficiently and accurately identifies clinically relevant gene fusions in pediatric tumors. Their results are reported in The Journal of…
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Una técnica pionera revela una nueva capa de regulación genética humana
Una técnica pionera revela una nueva capa de regulación genética humana La revista ‘Molecular Cell’ publica los resultados de un estudio que respaldan la teoría de que el retroceso representa una forma generalizada de regulación genética, que influye en miles de genes humanos, incluidos muchos involucrados en procesos vitales básicos como la división celular y…
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Hallazgo relevante de casi un millón de nuevos exones en el genoma humano
El hallazgo aporta información biológicamente significativa que puede abrir nuevos caminos para explorar el denominado ´genoma oscuro´ que es la parte más extensa y desconocida, todavía, del genoma humano. Actualmente, hay contabilizados alrededor de 20.000 genes codificadores de proteínas en los seres humanos que contienen aproximadamente 180.000 exones internos conocidos, que tan sólo representan el uno…
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Identifican nuevas variantes genéticas específicas de cada sexo en la enfermedad renal
Debido a los cambios demográficos propios del envejecimiento de la población, se prevé que la ERC pueda convertirse en una de las cinco principales causas de muerte en todo el mundo para 2040. Aproximadamente, el diez por ciento de la población mundial padece actualmente enfermedad renal crónica (ERC) que puede derivar en insuficiencia renal, enfermedades cardiovasculares y…
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New sex-specific genetic variants for chronic kidney disease identified
by Anne Grimm, Leipzig University Working with an international consortium, scientists at Leipzig University have identified new genes that may play a role in chronic kidney disease. They analyzed data from more than 900,000 people and found effects that in some cases differed between men and women. These new findings may help scientists better understand sex-specific differences in…
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Researchers discover inherited genetic mutations can predict interval breast cancer
An investigation conducted by researchers at Karolinska Institutet has led to a discovery in breast cancer diagnostics and treatments that could reshape screening programs and clinical approaches. The study, published in JAMA Oncology, unravels the impact of rare genetic variants on interval breast cancers, providing new insights into tailored screening strategies. Interval cancers, a type of breast…
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Test y asesoramiento genético, ‘armas’ para cáncer de mama hereditario
La alianza MSD-Astrazeneca lanza una campaña y un informe para arrojar conocimiento sobre esta patología oncológica Pedro Pérez, Marta Moreno, Marisa Cots, Rute Álvarez y Beatriz Sánchez. 17 ene. 2024 14:00H SE LEE EN 5 MINUTOS POR LAURA CAMACHO La alianza MSD-Astrazeneca ha reunido este miércoles a expertos y pacientes oncológicos con un único objetivo: dar visibilidad al cáncer de…
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Researchers trace a form of lupus back to a single mutation
Sometimes a single mutation in our genetic make-up is enough to cause disease. This is also the case with the autoimmune disease lupus. Lupus causes severe inflammation throughout the body and can have a serious impact on the lives of those affected. Researchers at the Max Planck Institute for Infection Biology in Berlin have now…