Genetics

Breakthrough in detecting mutations in genomes of single cells

Einstein researchers have developed and validated a method for accurately identifying mutations in the genomes of single cells. The new method, which can help predict whether cancer will develop in seemingly healthy tissue, ...

Obstetrics & gynaecology

Study examines issues related to prenatal detection of trisomies

Cell-free (cf) DNA analysis of maternal blood for trisomies 21, 18 and 13 is superior to other methods of screening, but it's expensive. One strategy to maximize cfDNA testing at reduced cost is to offer it contingent on ...

Genetics

A new syndrome caused by mutations in AHDC1

A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

Health

One in four has alarmingly few intestinal bacteria

All people have trillions of bacteria living in their intestines. If you place them on a scale, they weigh around 1.5 kg. Previously, a major part of these 'blind passengers' were unknown, as they are difficult or impossible ...

Genetics

Skin cell defect is surprising allergy trigger

In a new study published in Nature Genetics, Northwestern Medicine and Tel Aviv University scientists have found that a structural defect in skin cells can contribute to allergy development, including skin and food allergies, ...

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