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Genetics and Birth Defects

Discovery of genes underlying fracture susceptibility and osteoporosis

According to a study published in the journal Nature Genetics, variants in 56 regions of the genome have been discovered to influence the Bone Mineral Density (BMD) of individuals. Fourteen of these variants were also found to increase the risk of bone fracture. Three researchers at Umeå University are involved in this study.
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Scientists discover tool that uncrosses chromosomes

Researchers at the University of California, Davis, have discovered a key tool that helps sperm and eggs develop exactly 23 chromosomes each. The work, which could lead to insights into fertility, spontaneous miscarriages, cancer and developmental disorders, is published April 13 in the journal Cell....
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Genetic adaptation of fat metabolism key to development of human brain

About 300 000 years ago humans adapted genetically to be able to produce larger amounts of Omega-3 and Omega-6 fatty acids. ...
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Changes in Gene Expression May Help Explain High Blood Pressure in Pregnancy

Virginia Commonwealth University School of Medicine researchers have discovered that changes in the gene expression of a key enzyme may contribute to high blood pressure and increase susceptibility to forming blood clots in pregnant women with preeclampsia....
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Determining a Stem Cell's Fate

Caltech biologists scour mouse genome for genes and markers that lead to T cells...
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Gene switches do more than flip 'on' or 'off'

A UNC-led team of scientists finds that transcription factors don’t act like an ‘on-off’ switch, but instead can exhibit much more complex binding behavior. ...
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Nature study: POWERFUL SEQUENCING TECHNOLOGY DECODES DNA FOLDING PATTERN

Findings provide tools for better understanding of the human genome...
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Genes identified for common childhood obesity

An international collaborative study including researchers from The University of Western Australia has identified at least two new gene variants that increase the risk of common childhood obesity. ...
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Potential gene therapy for patients with rare disease

Australian scientists have discovered that a biological phenomenon known as ‘somatic reversion’, when an abnormal gene spontaneously becomes normal again, explains why some patients with a rare genetic disorder live much longer than they should. ...
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Discovery sheds new light on congenital birth defects

Australian scientists have made a landmark discovery that could help women minimise or even avoid the risk of having a baby born with congenital birth defects....
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