Categoría: MedicalXPress
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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…
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Precision medicine helps more patients receive a genetic diagnosis
A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. To date, more than 15,000 p…
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A new lens on autism’s sex bias: How X chromosome ‘escape’ genes could shape risk
Autism has a significant and enduring sex bias, with roughly four boys diagnosed for every girl. For many years, experts have believed this disparity arises primarily from diagnostic inequities because much of autism research—and the screening tools th…
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Newly discovered recessive neurodevelopmental disorder may be most prevalent ever
Researchers at the Icahn School of Medicine at Mount Sinai in New York have identified and described a previously unknown recessive neurodevelopmental disorder (NDD) that appears to be the most prevalent ever discovered. The condition is caused by chan…
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Autism risk genes are shared across ancestries, research reveals
A new study, co-led by researchers at the Icahn School of Medicine at Mount Sinai and published March 30 in Nature Medicine, demonstrates that genes associated with autism risk are largely the same across people of different ancestries. The findings, b…
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Global review finds wide gaps in rules for polygenic embryo testing
A new global review shows that countries are taking very different approaches to regulating polygenic embryo testing. For more than four decades, in vitro fertilization (IVF) has helped families have children. Scientists estimate that more than 10 mill…
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Designing global flu vaccines? Studies suggest common IGHD deletions may block key antibodies
Inherited variations in antibody genes can affect how we respond to infections and vaccines, show two new studies from Karolinska Institutet published in the journal Immunity. The researchers have mapped immune gene variation across multiple global pop…
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Are heart failure and atrial fibrillation the same disease? Study reveals shared genetic and molecular mechanics
New research from a multi-institutional team, published in Nature Cardiovascular Research, reveals that heart failure and atrial fibrillation share underlying genetic and molecular mechanisms, suggesting that the two cardiovascular conditions may be le…
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Study of 11,000 tumors maps 134 DNA damage signatures across 16 cancers
A team of cancer genomics scientists from The University of Manchester and The Institute of Cancer Research, London, forensically examined the genetic make-up of tumors in 16 different cancers. Their findings, which have been published in Nature Geneti…