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Using the mostcomprehensive genomic test availablerapid Whole Genome Sequencing (rWGS)the program called Project Baby Bear analyzed the genetic code of 178 infants to provide doctors and families with vital diagnostic information that empowered them tomake life-altering medical decisions resulting in shorter hospital stays, fewer invasive procedures and targeted personalized care. "Among high-risk infants with rare, genetically determined diseases, time-to-treatment is crucial," said Stephen Kingsmore, MD, DSc, President and CEO of Rady Children's Institute for Genome Medicine (RCIGM).

Two new studies from Rady Childrens Institute for Genomic Medicine (RCIGM) find that parents and doctors of critically ill infants view first line sequencing as beneficial, whether or not a definitive diagnosis is achieved. The studies were both part of the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study and were published in early November in The American Journal of Human Genetics. This groundbreaking research into stakeholders experiences with sequencing in the NICU provides another justification for incorporating sequencing as standard care of critically ill infants with undiagnosed conditions.

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit. When Nathaly Sweeney launched her career as a pediatric heart specialist a few years ago, she says, it was a struggle to anticipate which babies would need emergency surgery or when.

Carrier screening can prevent disease in families, but some doubt that it can change population-level incidence of disease. One in 100 babies worldwide is born with a disease caused by a single gene, according to the World Health Organization.

WASHINGTON (AP) - Too often, newborns die of genetic diseases before doctors even know what is to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care. The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations.

By Randy Dotinga HealthDay Reporter WEDNESDAY, Oct. 3 (HealthDay News) -- Researchers say they have developed a blood test that could potentially detect hundreds of genetic conditions in newborn babies in about two days.

WASHINGTON (AP) - Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care. The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations

WASHINGTONToo often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care

WASHINGTON (AP) -- Too often, newborns die of genetic diseases before doctors even know what's to blame.

Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.

By Elizabeth Landau (CNN) Genome sequencing is rapidly changing modern medicine, and a new study shows its potential impact on seriously ill newborn babies. New research published in the journal Science Translational Medicine this week makes the case for a two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU).

NEW YORK 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 detect disease-causing mutations. The system provided likely diagnoses for three of four sick infants in about two days, results published in Science Translational Medicine found

Babies with genetic disorders can have their whole genome screened for muations in just two days. Taylor S. Kennedy/ Getty Images A faster DNA sequencing machine and streamlined analysis of the results can diagnose genetic disorders in days rather than weeks, as reported today in Science Translational Medicine1

KANSAS CITY, Mo., Oct. 3, 2012 /PRNewswire/ --Today investigators at Children's Mercy Hospitals and Clinics in Kansas City reported the first use of whole genome information for diagnosing critically ill infants

Medicine appears poised to begin sequencing the entire genetic scripts of newborn babies with serious illnesses, a revolutionary change that was set in motion three years ago when scientists and doctors in Wisconsin used a similar technique to diagnose and treat a young Monona boy with a mysterious illness. In a study released Wednesday in the journal Science Translational Medicine, researchers at Children's Mercy Hospitals and Clinics in Kansas City report that they used whole genome sequencing to diagnose babies born with serious genetic illnesses. Of the seven cases in which doctors used genome sequencing, six resulted in diagnoses

For babies born with the rare genetic disorder phenylketonuria (PKU), their bodies are unable to break down a certain amino acid, which can lead to brain damage and seizures.

A new technology can diagnose rare genetic disorders in critically ill newborns within a few days, rather than the weeks that are needed with current methods, researchers say. The technology involves sequencing the infant's genome, and then using new software to hone in on the genes most likely to be disease culprits.

A new method of genetic testing appears to be able to help doctors diagnose critically ill babies more quickly than ever before, according to a new study. The method allows doctors for decode a baby's entire genome in two days -- breathtakingly fast compared to current methods that can take six weeks or more. In the new study, the researchers report using the approach to decode the entire genomes of six acutely ill newborns admitted to neonatal intensive care units, two of whom had already been determined to have genetic diseases.

WASHINGTON (AP) Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care

A new method of genetic testing appears to be able to help doctors diagnose critically ill babies more quickly than ever before, according to a new study.

SAN DIEGO--(BUSINESS WIRE)-- Illumina, Inc. (ILMN) today announced five initial TruSight content sets for use in next-generation sequencing (NGS) in laboratory settings. Designed by recognized experts at leading institutions, the content sets offer cost-effective, streamlined, targeted sequencing for specific genetic diseases or conditions.