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Tag: genetic testing

March 2011
News

Prenatal tests for autism mutations pose ethical dilemmas

by  /  31 March 2011

Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.

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News

Meeting brings unusual focus to Phelan-McDermid syndrome

by  /  10 March 2011

The first international meeting on Phelan-McDermid syndrome brought together researchers and family members of those affected by the disorder, sparking collaboration and some emotion.

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February 2011
News / Profiles

Matthew State: Bridging the gap between bench and bedside

by  /  24 February 2011

Matthew State is both a dedicated clinician and a world-class geneticist, but his diplomatic style is a relic of his former adventures in politics.

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News

Families hint at diverse effects of chromosome 16p deletion

by  /  14 February 2011

Two new studies of families carrying glitches on a region of chromosome 16, which has been strongly associated with autism, reveal the wide range of effects caused by the variant and narrow the list of possible culprit genes.

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Opinion

Future shock

by  /  2 February 2011

As genetic testing becomes routine, people are likely to face difficult choices about parenthood.

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January 2011
News

High-tech national project set to trace brain’s connections

by  /  4 January 2011

Over the next five years, dozens of researchers funded by the $40 million ‘NIH Human Connectome Project’ will map the circuits of the human brain, tracing neural pathways and learning how different regions work together in synchrony.

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October 2010
Opinion

Speed trap

by  /  13 October 2010

New DNA tests for fragile X syndrome are quick, but also raise ethical questions: they pick up abnormalities in some babies who won’t develop symptoms until adulthood, if at all.

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News

New tests for fragile X promise routine screening

by  /  11 October 2010

A new wave of genetic tests for fragile X syndrome, the leading cause of inherited mental retardation and the most common genetic cause of autism, may make it possible to routinely screen pregnant women and newborns for the syndrome.

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August 2010
Opinion

Risky secrets

by  /  30 August 2010

For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you’re more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?

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May 2010
News

Microarray analysis deemed best genetic test for autism

by  /  28 May 2010

Chromosomal microarray analysis, which screens the entire genome for tiny blips in the sequence, should be the first genetic test performed when diagnosing autism, says a consortium of clinical geneticists. The recommendation comes on the heels of a study that found the test is three times more effective at spotting autism variants than are standard clinical methods.

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