Autor: Clinical genetics
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Nanoparticle-based gene editing could expand treatment options for cystic fibrosis
UCLA researchers have developed a lipid nanoparticle-based gene-editing approach capable of inserting an entire healthy gene into human airway cells, restoring key biological function in a laboratory model of cystic fibrosis and establishing a potentia…
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Childhood disadvantage can block the benefits of genetic potential, study finds
New research from the University of Bath’s School of Management shows that a genetic predisposition for success can be derailed by childhood adversity, shifting focus from long-term goals to immediate survival, creating hidden barriers to social mobili…
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Connecting the dots between cause-effect events in Alzheimer’s disease
A study published in Molecular Psychiatry reveals a path of cause-effect molecular events that can lead to Alzheimer’s disease (AD). Researchers at Baylor College of Medicine, Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hosp…
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Studies show 11 genetic variants affect gut microbiome
In two new studies on 28,000 individuals, researchers are able to show that genetic variants in 11 regions of the human genome have a clear influence on which bacteria are in the gut and what they do there. Only two genetic regions were previously know…
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Helping mothers with epilepsy take life-saving medication without fear of birth defects
Scientists are moving toward a genetic test that could help thousands of mothers with epilepsy safely take life-saving medication without fear of it causing birth defects in their children.
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RNA is key to the dark matter of the genome. Scientists are sequencing it to illuminate human health and disease
Although there are striking differences between the cells that make up your eyes, kidneys, brain and toes, the DNA blueprint for these cells is essentially the same. Where do those differences come from?
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Want a tall, smart child? How IVF tests are selling a dream
Prospective parents are being marketed genetic tests that claim to predict which IVF embryo will grow into the tallest, smartest or healthiest child. But these tests cannot deliver what they promise. The benefits are likely minimal, while the risks to …
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What telehealth changes for adult survivors of childhood cancers: More genetic testing, earlier screening options
Adult survivors of childhood cancers are at higher risk for another cancer—such as breast, colorectal, sarcomas and thyroid cancer—that is not a relapse of their original illness. Previous cancer therapies are largely responsible. However, up to 13% of…
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Men lose their Y chromosome as they age: Scientists thought it didn’t matter—but now we’re learning more
Men tend to lose the Y chromosome from their cells as they age. But because the Y bears few genes other than for male determination, it was thought this loss would not affect health. But evidence has mounted over the past few years that when people who…
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False alarm in newborn screening: How zebrafish can prevent unnecessary spinal muscular atrophy therapies
A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research findings from Germany and Australia now show that i…