Release date: 2016-05-30
Scientists at the University of British Columbia's BC Children's Hospital accurately diagnosed some of the genetic diseases behind mental retardation through genome-wide sequencing and discovered new genes, new signs, and new symptoms associated with known diseases. This breakthrough achievement, published in the top medical journal New England Medicine on May 25, demonstrates for the first time that whole-genome sequencing can change the lives of children with intellectual disabilities.
Mental retardation is a more complicated problem. Some children have mental retardation because a rare genetic disease interferes with the body's metabolic function. This metabolic disorder can cause energy and toxic substances to accumulate in the brain and body, eventually leading to developmental delay, cognitive deficits, epilepsy and organ dysfunction. Metabolic disorders at the cellular level are useful for such diseases, such as adjusting diet, vitamin supplementation, taking medications, and bone marrow transplants. Early intervention can greatly help these children and significantly improve the quality of life of their families.
Dozens of children at BC Children's Hospital may have encountered the above problems, but traditional methods cannot confirm them. The researchers performed metabolomics analysis and whole exome sequencing of these children and their families. On this basis, they diagnosed 68% of the children and provided targeted treatment for 40% of the children.
The researchers discovered a new genetic disease, carbonic anhydrase VA deficiency, by sequencing. The disease occurs in early childhood, and the child's inability to properly break down proteins causes blood ammonia to be too high in the body, eventually causing fatal sleepiness and coma. The researchers pointed out that the drug carglumic acid can prevent brain damage caused by this disease. The researchers also discovered a new metabolic disease, aspartate aminotransferase 2 deficiency. This disease mainly affects the brain and manifests as small head, epilepsy and developmental delay. Treatment with serine and vitamin B6 can improve the symptoms of the child.
The use of next-generation sequencing (NGS) to make diagnoses is becoming more common in today's clinics. Driven by the sequencing instruments of Illumina, Thermo Fisher, and Pacific Biosciences, clinical laboratories are producing large amounts of DNA sequence data. As a result, researchers and clinical geneticists have found it easier than ever to turn medical puzzles into clinical action.
In the past, researchers often used whole exome sequencing to detect disease-causing mutations, but the cost of whole-genome sequencing is getting lower and lower. Which method is better? Alexander Bolze of Rockefeller University (now at the University of California) and colleagues compared the two methods and published the results in the recent Proceedings of the National Academy of Sciences PNAS.
Researchers at the Huada Gene Research Institute and the First Affiliated Hospital of Guangzhou Medical University reported that they completed the first large-scale sequencing of primary and metastatic lung adenocarcinoma in Asian patients. The study, published in the journal Nature Communications, laid the foundation for personalized medicine for lung adenocarcinoma and helped elucidate the molecular mechanisms of metastatic lung adenocarcinoma.
Source: Biopass
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