Categoría: Noticias
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Genetic variants involved in rapid immune response linked to earlier breast cancer onset in BRCA1 carriers
Damaging variants in genes involved in a rapid immune response (innate immunity) are significantly linked to earlier breast cancer onset in carriers of the harmful BRCA1 genetic mutation, reveal preliminary findings published online in the Journal of M…
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Integration of single-cell multiomics data allows a more precise identification of rare cell types and states
Researchers at the Josep Carreras Leukaemia Research Institute have demonstrated that combining data from different origins enables a more precise characterization of cell type’s diversity into tissues and organs. The team also introduced scOMM, a new …
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Twin study suggests genes explain most of the link between IQ and socioeconomic status
New twin research shows that innate IQ plays a major role in predicting your future socioeconomic status. The study, which follows twins during the crucial early adult years, reinforces the view that heredity and genes shape our life opportunities—and …
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Genetic cause identified for one in four MND patients in largest ever rare variant analysis
Project MinE, an international consortium co-founded by researchers at King’s College London, has identified new genetic variants that play a role in the development of motor neuron disease (MND). These findings mean that a genetic component is identif…
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Prioritizing potentially cancer-causing mutations in real-world cancer genomics
Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in comprehensive genomic profiling (CGP) of cancers. This…
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Down syndrome study suggests early RNA editing shifts may reshape fetal brain circuits
A collaborative research study co-led by scientists at the Icahn School of Medicine at Mount Sinai and the Liber Institute for Brain Development has for the first time identified a biological process that may help explain how the brain develops differe…
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Common genetic cause of severe epilepsy revealed
A 6-year-old girl is one of more than 80 people worldwide who has finally received a diagnosis of a new condition following research by scientists and doctors in Manchester. Ava Begley’s parents say they feel «deeply grateful» that the researchers, fro…
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Mutation map reveals how amylin mutations influence type 2 diabetes
Researchers at the Institute for Bioengineering of Catalonia (IBEC) have produced a mutational map showing how mutations in amylin—a hormone that plays a key role in glucose regulation—affect its tendency to form toxic amyloid aggregates in the pancrea…
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Genetic code of growing bacterial threat identified using whole-genome sequencing
Scientists at Houston Methodist Research Institute have discovered that a fast-rising strep bacterium comes in more forms than expected, including ones that may lead to life-threatening infections. The study, led by James Musser, M.D., Ph.D., chair of …
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Changing the long search for rare disease diagnoses with new AI breakthrough
A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often takes years and frequently ends without answers. The tool analyzes how genes have evolved across many species to uncover hidden…