Electronic enthusiast network Core Tip: The research team of Stephen Kingsmore, Children's Love Hospital, Missouri, US Kingsmore, developed a faster, simpler way to find translated genetic mutations in the sequence of all gene sequences. This device that can quickly detect DNA and the latest analysis methods for the resulting results can diagnose newborns genetic defects in a short period of time, and publish a new research report on "Science-Transformation Medicine".
New ways to quickly diagnose newborn genetic diseases within 50 hours
A device that can quickly detect DNA and the latest analytical method for the resulting result can diagnose newborns genetic defects in a short period of time, and published a new research report on "Science-Transformation Medicine".
At present, up to one-third of newborns need to enter neonatal intensive care room due to the suffering of ostrich disease. Although symptoms may be very serious, it is difficult to determine the genetic cause of this symptom. There have been numerous genotic diseases to be found, but effective supporting methods are very limited, even these detection methods can only diagnose the most common genetic mutations.
All gene sequencing can quickly detect many diseases, but the cost is very expensive, and the results are very complex, and the time required is too long. The research team of Stephen Kingsmore, the Children's Love Hospital of Missouri, US Missouri, applies a more rapid, simpler way to find genetic mutations related to all gene sequences. This method is designed for general, no medical physicians trained in specialized genetics to facilitate their clinical use.
The researchers said that the new whole genome sequencing technology can be diagnosed in a few days of diagnosis of hereditary diseases in the neonatal in the intensive care chamber. The main revolutionary feature of this technology is the speed - the results of genetics can be obtained in one time 50 hours of turnaround time, while the current method takes a few weeks to obtain these results.
This genetic test can shorten the time to get the diagnosis in order to quickly start any suitable treatment, and reduce the time of anxious parents to obtain genetic counseling. Kingsmore said that although the diagnostic report in this study did not affect the treatment plan, it was a huge comfort, and the physician can stop those expensive, aggressive tests, and family can also plan for future pregnancy plans. Get genetic counseling.
New ways to diagnose newborns genetic diseases
It is reported that this technology called SSAGA allows any doctor to open a complex genome test result over several clicks. After getting a drop of blood and extracting the baby's DNA, the doctors can press the button that represents the characteristics of the disease seen in a patient. Computers are then drawn into a complete collection of approximately 7500 genes and hereditary diseases. The system will then look for a change in DNA coding that can explain your baby's disease.
Scientists who participated in research said the entire process can be completed within approximately 2 days, so it is ideal in newborns' intensive care units.
Researchers use this new technology to make a clear diagnosis in the four babies they tested. This fast diagnosis can have a huge role in ensuring the health of your baby, about 500 genetic diseases can be treated. For example, phenylketone urine is a genetic disease that affects neonatal and leads to intellectual disorders and epilepsy. However, accept appropriate early diagnosis and subsequent treatment allows children to have normal intellectual development and life.
The study team will plan to extend the test to 100 or more babies to accurately understand the exact efficiency, cost and problem of the test method (if any). Researchers also believe that they can cut the total test time from 50 hours this year to 36 hours.
These innovations will be able to help more hospitals in clinical nursing to implement gene sequencing, Richard Gibbs, director of the human genome sequencing center of Beller Medical College, "From here, many people began to realize the future is now."
Help those with serious diseases, time is very important, Wisconsin Medical College Genetics Elizabeth Worthey pointed out. She also hopes that large-scale medical institutions can develop information sharing policies and techniques to treat children with sick children.
However, rapid detection cannot diagnose all genetic diseases, Kingsmore, is generally ignored, such as genetic mutations such as repeating genes. Despite this, he predicted that future sequencing methods can provide timely and effective diagnosis many times, otherwise these are still a painful secret. , Reading the full text, the technology area
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