genetic diseases

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Noninvasive prenatal testing by analyzing mother's blood

Currently, prenatal diagnosis of genetic diseases and genetic monitoring of fetal development require invasive procedures. New data generated by Jill Maron and colleagues, at Tufts — New England Medical Center, Boston, has indicated that it might be possible to perform these processes non-invasively.

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Disease Resistance may be Genetic

According to a study in Evolution, resistance to certain infectious diseases may be passed genetically from parent to child. The genetic resistance may be beneficial to families as those with the gene are both unlikely to suffer from disease and unlikely to carry the disease home.

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New gene family identified essential for embryonic development

Researchers at BRIC, University of Copenhagen, have identified a new gene family (UTX-JMJD3) essential for embryonic development. The family controls the expression of genes crucial for stem cell maintenance and differentiation, and the results may contribute sig-nificantly to the understanding of the development of cancer.

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Claims of sex differences genetic association studies not validated

A review of previous research suggests that prominent claims of sex differences of gene-disease associations are often insufficiently documented and validated, according to an article in the August 22/29 issue of JAMA.

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Physicist cracks women's random but lucky choice of X chromosome

A University of Warwick physicist has uncovered how female cells are able to choose randomly between their two X chromosomes and why that choice is always lucky.

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Drug Discovery for Lou Gehrig's Disease Be Re-Examined

Most research on Lou Gehrig's disease therapeutics has been based on the assumption that its two forms (sporadic and hereditary) are similar in their underlying cause. Now, researchers at the University of Pennsylvania School of Medicine have found an absolute biochemical distinction between these two disease variants, suggesting that current approaches to drug discovery should be re-examined.

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New treatment possibilities for fatal genetic disease

Researchers at Melbourne's Howard Florey Institute have opened up new treatment possibilities for Huntington's disease by proving a scientific theory incorrect.

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Brain tissue reveals possible genetic trigger for schizophrenia

A study led by scientists from the University of North Carolina at Chapel Hill may have identified a molecular mechanism involved in the development of schizophrenia.

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Individuals and populations differ in gene activity levels

Much like how a person's genetic code differs from other individuals, the level at which those genes are activated in the body differs from one person to another, scientists have learned. And though some of those differences in gene activity are seen between different populations - Asians versus Europeans, for instance - more of those variations are due to individual-level factors, further obscuring the biological meaning of "race."

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Newborns with respiratory distress potentially have primary ciliary dyskinesia

Newborns with respiratory distress should be evaluated for primary ciliary dyskinesia, a rare genetic disease that has features similar to cystic fibrosis, says Thomas Ferkol, M.D., from Washington University School of Medicine in St. Louis. He reports finding that about 80 percent of patients with primary ciliary dyskinesia (PCD) have a history of newborn respiratory distress.

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Rare disorder gene may reveal new pathway in mental retardation

Studying mutations that give rise to a rare genetic disease, genetics researchers have identified a novel biological pathway that may have a broader role during human development, potentially in cases of mental retardation and autism.

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A transplant in time

Scientists ID time window for effective porcine embryonic tissue transplant

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