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    Home > Medical News > Latest Medical News > Kaion Medicine: Polymer detection all in one, genetic disease-related genome copy number variation detection accuracy increased 200 times.

    Kaion Medicine: Polymer detection all in one, genetic disease-related genome copy number variation detection accuracy increased 200 times.

    • Last Update: 2020-07-29
    • Source: Internet
    • Author: User
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    Guide: Kaion Medical's self-developed polymer detection technology, or its fulcrum towards the futureAs a leader in genetic diagnosis of genetic diseases in China, Kaion Medical provided diagnostic services to more than 5,000 patients through its own self-developed polymer detection technology, including a case that impressed the company's team: a 7-month-old child who was diagnosed with "recurrent seizures of epilepsy" and found through polymerdetection technology that the child was epileptic encephalopathy type 17 caused by the pathogenic mutation of the GNAO1 gene!---- At the same time, a drug-based deaf spot was detected on the online granulocyte gene by polymer detection technologyThrough genetic consultation, the risk of drug-based deafness caused by the use of aminoglycoside drugs is avoidedA 12-month-old child due to "congenital heart disease, room gap defects" in the heart surgery, the proposed surgical treatmentPreoperative check-ups found abnormal muscle tone in children, and genetic examination was recommended after consultation with neurologyThrough polymerization detection technology, the child found that the child in the X chromosome chrX: 153051727-153073594 region of about 20kb of fragment loss, which contains IDH3G, SSR4, and PDZD4 three genesAmong them, the "congenital glycosyl disease Iy type" caused by the SSR4 gene mutation matched the clinical phenotype of the childBased on information provided by aggregate detection techniques, surgery and neurology jointly agreed on a new surgical optionA 33-year-old female patient, the family of three generations are early-onset diabetes, I have been diagnosed with diabetes for 8 years, has not found a clear causeIn genetic consultation, genetic surgeons recommend genetic examinationThrough polymerization detection technology, it was found that the patient was the mitochondrial TL1 gene, m.3243A,G mutation caused by "mitochondrial diabetes", both mother and grandmother carried the same mutation site, the cause of premature family diabetes was clearWhat is the "black technology" of polymer detection technology mentioned above? Why is it possible to fully and accurately diagnose monogene genetic diseases? "Polymer detection technology is a new genetic diagnosis technology developed by Kaion Medical," explains Sheng Min, director of medical operations at KaionThe technique is developed with the pathogenesis of disease, and is tested and analyzed by one-step method, more than 23,000 nuclear gene exosome region variants, mitochondrial ring gene variants, and whole genome copy number variation (CNV)The polymerization detection technology increases the sensitivity of gene copy number variation (CNV) by nearly 200 times (resolution up to 1kb) by encrypting the whole genome CNV probeWhile increasing the positive rate (about 10%), it effectively solves the pain point of the incomplete single testing technique and reduces the expenditure of the subject"Solving the two root causes of the genetic disease diagnosis market pain point single gene genetic disease involves a wide range of symptoms, many departments, complex clinical diagnosis According to the World Health Organization, the cumulative incidence of single-gene genetic diseases in the global birth population is 1% As of July 22, 2020, 6,699 single-gene genetic diseases/phenotypes have been included in the authoritative online human Mendelian Genetics Database (OMIM) Sheng Min said that there are two major difficulties in the field of genetic diagnosis of genetic diseases in China: first, false negative due to the limitations of detection technology, and second, the lack of root-and-treat means for most diseases, and limited application value of diagnostic results The patient had genetic disease characteristics, but the test results were negative Is the detection of incomplete coverage? Do you need to expand to full exomers, mitochondria, or high-resolution CNVs? Is the re-charge affordable? In the face of these problems, clinicians and patients are difficult to choose Even in cases diagnosed with single-gene genetic diseases, those that can achieve the effect of "root, cure, prognosis, complete remission" or "significantly improve, normal life" effect, are still in the minority relative to the type of disease Starting from the initial focus on solving these two difficulties, the founding team set up Kaion Medicine in 2017, through continuous innovation of iterative aggregation testing technology, to promote the "comprehensive diagnosis of genetic diseases" landing, and with multidisciplinary clinical cooperation, in-depth analysis of the association between disease and genetic data, joint research and development of new treatment technology and new accompanying diagnostic solutions for genetic diseases Why did Kaien Medicine be founded in 2017? The founding team considered this: First, at that time, the application of high-throughput sequencing technology to genetic disease detection has been recognized by the market Second, the change of sequencers, the price of sequencing has decreased significantly, with the polymer detection products of the necessary conditions for large-scale promotion Third, at that time, genetic disease detection is still based on various types of gene package (panel), gene package products by the speed of renewal and detection range of restrictions, detection capacity can not meet the "diagnosis" needs, clinical needs "diagnosis level" testing products As a result, the founding team of Kaion Medical has been developing and promoting "aggregate inspection technology" since 2017 Kaion Medical Core Team consists of senior technical personnel from clinical medicine, medical genetics, molecular biology and other fields to understand the differential needs of specialized diseases, focus on the development of polymer detection technology, from the beginning of 2018 to the clinical, has completed more than 5000 cases of testing and analysis, access to clinical recognition, in fact, helped a large number of subjects Polymer ization test: one-step test, the positive rate increased by 10% Shengmin to Kaion medicine positioning is "the embryo mutation leading to the diagnosis of diseases with significant genetic factors and accompanying diagnosis company." She believes there is a big difference between "diagnosis" and "testing" Diagnostic-grade products are results-oriented and provide more comprehensive diagnosis, treatment and prognosis assessment for clinicians on the premise of saving the cost of the subject This is also the starting point for Kaion Medical's determination to be clinically demand-oriented in the development of more clinically relevant polymer detection technologies and products From 2020, on the basis of detecting "full exotrons, mitochondria, high-resolution CNVs", polymer detection technology has also innovatively probe-encrypted some of the disease-specific disease-causing areas, further expanding the detection range, covering the genome "single parent duoplin region (UPD)," "disease-related inhesinatiating mutation region", "deep enjoined sub-region", "HLA cell mutation region" and so on, forming a new "3 x" model These area-specific encryption probes, designed exclusively by Kaion Medical, undergo multiple quality inspections from design to production, ensuring reliable and excellent performance indicators such as capture efficiency and homogeneity Sheng Min said that polymerdetection technology provides a new technical idea for genetic disease detection, and its clinical application advantages are obvious, including: it can be issued within 7 days comprehensive diagnostic report; With the help of this technology, Kaion Medical has been involved in projects such as new treatments for hertinitis in children "Matching the right treatment or intervention (medical decision) is a maximization of the value of the diagnosis of genetic diseases "Currently, Kaion Medical is working with the clinic on a series of forward-looking scientific research projects that guide medical decisions about genetic diseases, such as the ovarian early aging prediction model, the refractive epilepsy prediction model, and the cardiovascular complications prediction model for Kawasaki disease Turning to future planning, Sheng Min said that Kaion Medical will continue to promote and popularize the "3 plus X" polymer detection technology, benefit more subjects, help doctors more accurate and targeted diagnosis of specific diseases, to contribute to the diagnosis of medical genetics In the long run, Kaion Medicine will continue to improve the clinical SOP of accompanying diagnosis-new treatment options based on the study of the pathogenesis of the disease, hoping that one day it will help to cure more genetic diseases
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