DNA scan speeds up testing for sick babies

  • Updated: October 6, 2012 - 9:02 PM

 

Scanning the DNA of sick infants using a new speed-reading method can diagnose rare genetic disorders in two days instead of weeks, according to research that brings gene mapping a step closer to everyday hospital use.

Researchers at Children's Mercy Hospitals and Clinics in Kansas City, Mo., created software that takes raw data from DNA scanning machines and combs though hundreds of genetic disorders to spot disease-causing mutations. The system provided likely diagnoses for three of four sick babies in about two days, said results published in Science Translational Medicine.

The new method has the potential to make genome sequencing practical for neonatal intensive care units, enabling doctors to diagnose mysterious genetic diseases more quickly, said Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy and a study senior author. Spotting the cause of a disease sooner may allow treatments to be started before it is too late, or help avoid futile therapies for others, he said. Kingsmore estimated the total cost of the test to be about $13,500.

The Children's Mercy Hospital system was made possible in part by a new sequencing machine developed by San Diego-based Illumina Inc. that can decode an entire DNA sequence of a person in one day. This generates a colossal volume of raw data that must be analyzed by genetic researchers, a process that previously has taken weeks or months.

But Kingsmore and his team devised smart software that allows treating doctors to enter a baby's symptoms. The software then matches the symptoms to known genetic diseases that have similar symptoms, and scans through the baby's genome results for likely harmful mutations in relevant genes. The software so far includes 600 genetic diseases that affect children, Kingsmore said. His team plans to have all 3,500 known genetic diseases entered in the system by year's end.

BLOOMBERG NEWS

STUDY SHOWS BENEFITS OF HORMONE THERAPY

Healthy middle-aged women who take hormones to ease the misery of hot flashes and night sweats have fewer depressive symptoms, less anxiety and tension, and better and more sex than those who do not, according to a new study.

Though the long-term effects of hormone replacement therapy could not be measured by the new research, it did offer some reassuring findings. It suggested that some women's cholesterol profiles and metabolic function might improve on hormone replacement therapy and that blood pressure did not rise during or after a relatively brief stay on hormone replacement.

Participants taking oral hormone replacement pills reported, on average, a slight improvement in their ability to recall printed materials they had read. But for women who received hormones through a transdermal patch, subjective reports of memory problems increased slightly, as did their severity. As expected, women who got hormone replacement maintained more bone density than those who did not.

The results from the Kronos Early Estrogen Prevention Study were presented at the North American Menopause Society's annual meeting in Orlando, Fla.

LOS ANGELES TIMES

OBESE CHILDREN LESS SENSITIVE TO TASTE

A small study has found that obese children are more likely than others to have a weak sense of taste. German researchers tested tasting ability in 99 obese and 94 normal-weight children, whose average age was 13, by having them try to identify tastes on strips of filter paper and asking them to distinguish among sweet, sour, salty, umami (savory) and bitter. Obese children scored an average of 12.6 out of a possible 20, while the normal-weight children averaged 14.1, a statistically significant difference. Obese children also rated flavor concentrations as being less intense than children of normal weight. The authors, writing online in the Archives of Disease in Childhood, say the reason for the association is unclear, but they suggest that the hormone leptin may affect both body weight and the sensitivity of taste buds.

NEW YORK TIMES

  • get related content delivered to your inbox

  • manage my email subscriptions

ADVERTISEMENT

Connect with twitterConnect with facebookConnect with Google+Connect with PinterestConnect with PinterestConnect with RssfeedConnect with email newsletters

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

 
Close