Safer fetal test for genetic diseases on horizon

sea-maid submitted, created time 4 days 14 hours (www.newscientist.com)

Using just a drop of the mother's blood, scientists can now tell if the fetus has a disorder like cystic fibrosis – it could soon spell the end for invasive techniques

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Case Western Reserve finds mechanism underlying alt. splicing of premessenger RNA into messenger RNA

piggy submitted, created time 1 week 5 days (www.eurekalert.org)

An international research team led by Tim Nilsen, Ph.D., a professor of medicine and biochemistry and the director of the School of Medicine's Center for RNA Molecular Biology, has discovered an unexpected mechanism governing alternative splicing, the process by which single genes produce different proteins in different situations

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Personal genomes: The case of the missing heritability

sea-maid submitted, created time 1 month 4 weeks (www.nature.com)

When scientists opened up the human genome, they expected to find the genetic components of common traits and diseases. But they were nowhere to be seen. Brendan Maher shines a light on six places where the missing loot could be stashed away.

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Genomic medicine sector "needs government backing"

Loss-of-function genetic diseases and the concept of pharmaceutical targets

Reviver submitted, created time 1 year 6 months (www.ojrd.com)

"The biomedical world relies heavily on the definition of pharmaceutical targets as an essential step in the drug design process. It is therefore tempting to apply this model to genetic diseases as well. However, whereas the model applies well to gain-of-function genetic diseases, it is less suited to most loss-of-function genetic diseases. Most common diseases, as well as gain-of-function genetic diseases, are characterized by the activation of specific pathways or the ectopic activity of proteins, which make well identified targets

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