Earlier in this month doctors of the Children Mercy Hospital in Kansas City use rapid DNA sequencing and analysis to identify the genetic mutation keeping a baby girl from eating and growing.
The hospital team was identified by the cause of her problems and a genetic disorder that can be treated in intensive nutritional support with vitamins to stimulate her mitochondria, the power houses of cells are ruled in other progressive and often fatal conditions. In other words they are genomic diagnosis helped shape her clinical care and pointing the way to nutritional supplements the girl needed to improve and the best way to feed her.
The baby girl is one of the two dozen critically sick infants whose genomes have been scrutinized are using the one of our fastest whole-genome analyses in the world.
The hope is such rapid genome analysis will help doctors better diagnose and then treat infants born with genetic disorders. Over the next five years of Kansas City team of doctor and geneticists will analyze the genomes of hundreds of more babies born with serious disorders to evaluate our benefits in two-day and genomic diagnoses to patients and their families.
The Children’s Mercy team is one of a few groups is the care of children with puzzling conditions. Earlier this year, the hospital is genomics center reported and it developed a system to sequence and interpret a analyses on neonatal intensive care patients because a diagnosis could change the care of these infants at Sarah Soden, the medical director has to spend in the stressful and expensive neonatal ICU.
Sick Babies Could Have Genomes Sequenced in Days
The rapid diagnosis could also have lifelong of benefits newborns. In the case of the newborn girl who was not eating and her muscles were so weak and she had trouble swallowing; she had been fed through a tube.A thickened formula .In which will allow her to learn how to eat in a critical developmental window. Kids who are not allowed to eat in the first months of life are really hard to later teach to eat.
Gene tests and whole-genome computational tools to more quickly identify the potentially medically relevant variations in a patient’s gene tests can be especially beneficial for newborns baby .
The analysis starts with a speedy 25-hour DNA sequencing process. This data is analyzed by software developed be connected to symptoms expanded to all DNA variants known to potentially cause disease.
With a recent $5 million grant from the National Institutes of Health, the hospital study the benefits and risks of using rapid genomic sequencing on will use the rapid sequencing for half of these newborns as part of their diagnostic workup.
Sequencing is still a relatively new underway at technology all, says Geoffrey Ginsburg, director of Genomic Medicine at Duke University’s Institute for Genome reduce the turnaround time, and lower the cost .
The Children of Mercy team has already used the rapid sequencing analyses on two often help $10,000 per sample.
भिडियो हेर्न माथि या तल को बिज्ञापन काटेर फेरी क्लिक गर्नुहोश
