Using gene sequencing to check what kinds of diseases people may have, this method has made many people excited. However, according to a report from the American Physicist Organization Network on January 24 (Beijing time), a new study at the Duke University Medical Center in the United States shows that genetic variations can also react with other disease-causing genes, causing completely different results in different patients. The symptoms. Therefore, it is not enough to use gene sequencing alone to understand human diseases. To master the biological correlation between the sequencing results and the corresponding conditions, functional detection is indispensable. Related research was published on the "Nature Genetics" website on January 23.
The Nicholas Kashanis laboratory at the Duke Human Disease Model Center focuses on a class of diseases called "Ciliary Movement Disorder." Cilia is an antenna-like projection organ that plays a key role in the normal functioning of cells. Ciliary dyskinesia can involve all sites where cilia are distributed. Respiratory tract infections caused by airway cilia dysfunction are the most common and can cause repeated respiratory infections. There is about 1 child with cilia dyskinesia in every 1,000 newborn infants, and the probability is similar to that of Daun syndrome (also known as congenital mortise).
The researchers sequenced TTC21B, a key gene that controls cilia. Although many genetic variants are associated with two disorders of human function, nephropathy, and asphyxial thoracic dysplasia, most DNA sequencing cannot determine which gene mutations. In the zebrafish model, author lead author Erica Davis tested these variants (many of which are similar to humans) and found that the TTC21B gene contributes approximately 5% to the causative mutation of human cilia dyskinesia.
"The current routine method is to sequence a large number of patients to see if any mutations have occurred," said Kashanis. "According to our research, although gene sequencing is important, it can solve only limited problems. It must also mutate genes for patients." The relevant functions are tested, combined with physiology, cell biology, biochemistry and other disciplines, in order to thoroughly and comprehensively grasp the disease-related conditions.â€
Davis also pointed out that each patient has his or her own unique genetic mutations. Gene sequencing and functional testing can be performed at the same time to be closer to reality and have greater significance for patients and their families.
At the beginning, some scientists banged their hands on the first completed human gene map and wondered how many cancers, heart diseases, or schizophrenia patients could see in their eyes. However, 10 years have passed and the scene of significant improvement in efficacy has not yet appeared. The new explanation is that technology is not yet strong enough to crack the genetic secrets that lie behind these diseases. No one will disparage the scientific significance of genome research, but Duke's conclusion today is a rare cold reminder that those who cannot wait to predict the market prospects of genetic sequencing instruments should carefully evaluate their medical value. .
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