diagnosis

For the First Time, Geneticists Diagnose Disease Through Whole-Genome Analysis


For the first time, researchers have made a clinical diagnosis by sequencing the entire protein-coding parts of a person's genome.

"We have shown that one can use whole genome sequencing to make clinically meaningful diagnoses- it is technically feasible . . . and can provide new clinical insight that directs treatment," Richard Lifton, a geneticist at Yale who spearheaded the research, told Popsci.com.

Protein-coding DNA only makes up about one percent of the human genome, but is responsible for about a large portion of diseases with a genetic component.

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New Psychiatric Diagnoses for a New Millennium

Revising the standard diagnostic manual for 2012 means revising our notions of mental normality

The world's changed a lot since 1994, and some of the signs of modern times -- obesity, Internet addiction - may find their way into the book that describes -- and guides diagnosis of -- psychiatric disorders. The latest Diagnostic and Statistical Manual of Mental Disorders, better known as DSM-V, will be landing with a massive thunk on physicians' and researchers' desktops in 2012, but until then, the American Psychiatric Association still has a lot of work to do in determining how the guide will be updated, the L.A. Times reports.

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Increase in Autism Due Only to Changes in Diagnosis

Researchers find more evidence that claims of a current "plague of autism" are greatly exaggerated

There is more evidence this month demonstrating that we are not, in fact, presently suffering through an age of increased incidence of autism, but rather as the definition of autism is refined, we discover individuals who were previously misdiagnosed. A University of Oxford study has followed up with a group of 38 adults who were originally involved in a series of studies on developmental language disorders in the late 80s and 90s. Those who manifest symptoms of the disorders have difficulty with spoken language, a trait also seen in autism.

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Better . . . Stronger . . . Faster . . .

â€â€â€â€â€ Popular Science introduces the engineered human â€â€â€â€â€

Brain chips that enable us to control machines with our thoughts. Kidneys and lungs built to order in the lab. Pills to make you smarter and more creative. An implant that gives you a tan and protects against skin cancer. All these innovations are in development; some are already being tested on human subjects.

The next technological frontier will be our own bodies. Genetics, materials science, tissue engineering and nanotechnology are already yielding products to help the sick and injured, including a Band-Aid-like heart patch and the C-leg prosthesis for amputees.

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The Future of the Body - Index

The body, Diagnosis, Brain Power, Reproduction, The Medicine Cabinet, Strength, Healing & Evolution . . .

Brain chips that enable us to control machines with our thoughts. Kidneys and lungs built to order in the lab. Pills to make you smarter and more creative. An implant that gives you a tan and protects against skin cancer. All these innovations are in development; some are already being tested on human subjects.

The next technological frontier will be our own bodies. Genetics, materials science, tissue engineering and nanotechnology are already yielding products to help the sick and injured, including a Band-Aid-like heart patch and the C-leg prosthesis for amputees.

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December 2009: Best of What's New

In our December issue, Popular Science names the 100 best innovations of the year: bombproof wallpaper, self-parking cars, the fastest helicopter, and 97 more. Plus inventor profiles and videos.

Check out the best of what's new here.

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