A few days ago, Stanford University scientists successfully diagnosed a rare genetic disease that had been undiagnosed based on long-term long-sequencing technology (three-generation sequencing). Please follow the small series to find out!
Ricky Ramon found a benign tumor in his left atrium during a routine examination at the age of seven. However, this is only the beginning for Ramon. He did not think of a series of troubles and surgeries that will follow in the next two years.
During this time, benign tumors appeared again in Ramon's heart and other parts of the body, including the pituitary gland, adrenal gland, and thyroid nodules.
Euan Ashley and colleagues used long-length long genome sequencing to diagnose a rare disease. This is the first time this technology has been applied to clinical diagnosis.
But the problem is that doctors can't diagnose what kind of disease he has.
At the age of 18, Ramon believed that his illness might be Carney's syndrome, a genetic disease caused by a mutation in the PRKAR1A gene, but DNA detection did not reveal the causative mutation in the gene.
Today, eight years later, researchers at the Stanford University School of Medicine used Ramet's long-sequencing technology to perform a systematic diagnosis of Ramon, and the condition was finally confirmed. This is also the first time in the clinical use of long-reading whole genome sequencing technology for diagnosis, the research results published in the June 22 issue of the Journal of Genetics in Medicine.
Illuminate the dark corner
The author of the article, Dr. Euan Ashley, a professor of cardiovascular medicine, genetics and biomedical data science, said that the current second-generation sequencing technology breaks DNA into small fragments of hundreds of bases. Long-length long sequencing can break DNA into long fragments of several tens of kb.
“This allows us to illuminate the dark areas of the genome for the first time,†Ashley said. “The development of technology is a powerful force in the medical field. We are able to routinely sequence the patient's genome, which was thought more than a decade ago. I can't think about it."
It is reported that the study was conducted in conjunction with PacBio, which is responsible for the cost of sequencing. The first author of the article is Dr. Jason Merker, Assistant Professor of Pathology, Stanford Clinical Genomics, and Dr. Aaron Wenger of PacBio.
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