The core tip of the electronic enthusiast network : The research team led by Stephen Kingsmore of the Children ’s Love Hospital in Missouri has developed a faster and simpler method to find related gene mutations in the entire gene sequence. This kind of equipment that can quickly detect DNA and the latest analysis method for the results can diagnose the genetic defects of the newborn in a short time, published in a new research report in "Science-Translational Medicine".
New method enables rapid diagnosis of neonatal genetic diseases within 50 hours
A device that can quickly detect DNA and the latest analysis method for the results can diagnose the genetic defects of the newborn in a short time, a new research report published in "Science-Translational Medicine" pointed out.
At present, as many as one-third of newborns need to enter the neonatal intensive care unit due to hereditary diseases. Although the symptoms may be severe, the genetic cause of the symptoms is difficult to determine. Countless genetic diseases have been discovered, but the effective matching detection methods are very limited, and even these detection methods can only diagnose the most common genetic mutations.
The whole gene sequencing can quickly detect many diseases, but its cost is very expensive, the result is very complicated, and it takes too long. The research team led by Stephen Kingsmore of the Children ’s Loving Hospital in Missouri applied a faster and simpler method to find related gene mutations in the entire gene sequence. This method is designed for general physicians who have not received training in specialized genetics to facilitate their clinical use.
The researchers said that the new whole-genome sequencing technology can diagnose the genetic disease of newborns in the intensive care unit within a few days. The main revolutionary feature of the technology is speed-genetic test results can be obtained within a 50-hour turnaround time, and it takes a few weeks to obtain these results using current methods.
This genetic test can shorten the time to get a diagnosis, so as to quickly start any appropriate treatment, and reduce the time for anxious parents to get genetic counseling. Kingsmore said that although the diagnostic report in the study did not affect the treatment plan, simple testing would be a great relief, and physicians can stop those expensive and aggressive tests, and families can plan for future pregnancy. Get genetic counseling.
New method for rapid diagnosis of neonatal genetic diseases
It is reported that this technology called SSAGA allows any doctor to write a complex genomic test result with a few clicks. After taking a drop of blood and extracting the baby's DNA, doctors can press a button that represents the characteristics of a disease they saw in a patient. The computer then mapped those into a complete collection of approximately 7,500 genes and inherited diseases. The system will then look for changes in the DNA code that explain the baby ’s disease.
Scientists involved in the study said that the entire process can be completed in about 2 days, so it is ideal for use in the neonatal intensive care unit.
The researchers used this new technology to make a definite diagnosis of three of the four babies they tested. This rapid diagnosis can have a huge effect on the health of your baby, and about 500 genetic diseases can be treated. For example, phenylketonuria is a genetic disease that affects newborns and leads to mental retardation and seizures. However, proper early diagnosis and subsequent treatment can make children have normal intellectual development and longevity.
The research team next plans to expand the test to 100 or more babies to accurately understand the exact benefits, costs, and problems of the test method (if any). The researchers also believe they will be able to reduce the total testing time from 50 hours to 36 hours by the end of this year.
These innovations will help more hospitals implement genetic sequencing in clinical care. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine, said, "From here, many people begin to realize that the future is now."
Helping children with serious illnesses, time is very important, says Elizabeth Worthey, a geneticist at the Wisconsin Medical School. She also hopes that large medical institutions can formulate information sharing policies and technologies to treat sick children.
However, rapid detection cannot diagnose all genetic diseases, Kingsmore said that current sequencing technology usually ignores genetic mutations such as repeated genes. Nevertheless, he predicts that future sequencing methods can provide timely and effective diagnosis in many cases, otherwise these are still painful secrets.
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