7 hours to detect a rare rash: the sequence of the revolutionary medical genome

Ultrasonic sequencing of the genome redefines the concept of rapidity for diagnostics: records identifying a rarity at the earliest time (Gettyimages)
Ultrasonic sequencing of the genome redefines the concept of rapidity for diagnostics: records identifying a rarity at the earliest time (Gettyimages)

Sequencing of the human genome is permeated to the complete verification of the complete DNA composition of a patientthis implies access to all relevant information about a person: desde the color of ojos hasta enfermedades hereditary.

Genetic information is vital for diagnosing patients with DNA-induced defects: an opinion that doctors know the specific genetic mutation, can adapt the treatments consistently.

An emblematic case of the advance in the genetic diagnostics given to the area by the scientists of the Stanford University, EEUU. Thanks to an ultra-rapid technology of sequencing the pudding genome diagnose rare genetic disorders in less than 7 hours; a hazard that is unconventional in the standard clinical attenuation.

“One of the few semantics is that the majority of doctors are ‘fast’ trying to sequence the genome of a patient and obtain results,” he said. Euan Ashley, cardiologist at Stanford University and associate with the Faculty of Medicine and professor of medicine, genetics and science of biomedical databases.

This mega sequence info was created by Ashley and her colleagues redefine the concept of rapidity for genetic diagnosis: lograron identify a rare nurse in more than one hour. The results of your investigation were published in the energy of the specialty magazine The New England Journal of Medicine.

The sequencing of the human genome is permeated to the complete verification of the complete DNA composition of a patient, which implies access to all relevant information about a person (Gettyi
The sequencing of the human genome is permeated to the complete verification of the complete DNA composition of a patient, which implies access to all relevant information about a person (Gettyi

El año pasado, el corazón de Matthew Kunzman, a 13-year-old born in Oregon, EEUU, established fallando, to weigh the most intentional of the medicines by refurbishing with all the bombs and cardiac apparatus which are only available. Tissue dysfunction in the heart and myocarditis sufferer, an inflammation of the cochlea that is caused, in general, by the infection of a virus.

“I do not need a machine for corazing and lungs to mount with screws,” said Euan Ashley, a Stanford University cardiologist and associate professor at the School of Medicine in Neo.Life. Doctors prescribe a genetic test on one and a half hours to diagnose a rare genetic condition that affects your condition. Thank you for the results, tan solo three semaphores despised by the child recycling a cochlear implant that survives the screw.

Investigators have been quick to determine that Matthew Kunzman's heart failure was the result of a high-throughput genetic sequence (photo: Stanford University Cortesia by Jenny Kunzman
Investigators have been quick to determine that Matthew Kunzman’s heart failure was the result of a high-throughput genetic sequence (photo: Stanford University Cortesia by Jenny Kunzman

The time that Matthew succeeds and diagnoses fue de 7 hours and 18 minutes, as Stanford experts say, it’s double the anterior record for a diagnostic based on genome sequencing (14 hours) that only Rady Children’s Institute of EEUU.

“Only one of these incremental moments occurs when the appropriate number of repetitive persons is aligned to incremental increments. “We really felt like we were approaching a new frontier,” Ashley said in a statement from Stanford University.

Euan Ashley and John Gorzynski, Stanford team leaders who devise a method for ultra-rapid sequencing of the genome (credit: Stanford University)
Euan Ashley and John Gorzynski, Stanford team leaders who devise a method for ultra-rapid sequencing of the genome (credit: Stanford University)

To record extra-sequence velocities, investigators need new hardware. Asley Ashley is in contact with colleagues Oxford Nanopore Technologies que habían construido a machine comprised of 48 units of continuous sequence such as flow switches.

The objective is to sequence the genome of a single person using all the flux cells simultaneously. The megamáquina blows out an excitement, an outcast. Genomic data abrumaron los computer systems.

“I do not want to process the data quickly enough. Tuvimos que repensar y renovate for complete new sewer files and spare systems”, Says the project director. To access the diagnostic, it is desirable to reduce approximately 4.5 million forms in which the genome of a person differs from the reference genome only by a sum of firms of genetically relevant variants.

Rapid diagnostics means that patients can take time in units of intense intensity, seek out menus, recover more rapidly, and take menus at attenuation. And the most important thing that demonstrates Stanford scientists is that genemic sequencing is more rapid without sacrificing precision.

In general, lleva semanas execute, process and interpret the results of the sequence. This is the time that most patients do not have. The stages in a dedicated hospital to search the cause of an unidentified nurse can cost decades in dollars.

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