International Rare Disease Day: Contribution of New Sequencing Technology - Huaqiang Electronic Network

February 29 is a rare day that only occurs once every four years. Because of its rareness, this day has also been designated as the Rare Disease Day to promote public and government concerns about the problems faced by rare and rare diseases. The prevalence of rare diseases is extremely low, but because of the wide variety, it affects millions of people around the world. Today, many scientists are beginning to use new technologies to study rare diseases. According to Pacific Biosciences, many of their customers have used SMRT sequencing technology to make important discoveries about the genetic mechanisms and pathogenesis of rare diseases. In the future, these studies are expected to bring new breakthroughs to help families who fight disease. The following examples illustrate how researchers use SMRT sequencing to understand rare diseases. James Lupski is a professor at Baylor College of Medicine and a patient with Charcot-Marie-Tooth neuropathy. He recently said that the de novo PacBio assembly found more structural variations, especially copy number changes, from his genome compared to short read data. He also described how long fragments can better resolve breakpoints associated with structural variations in these pathologies. According to Richard Gibbs of Baylor College of Medicine, only 25% of Mendel's genetic diseases can be solved with short read sequence data, and these platforms cannot detect structural variations, repetitive regions and complex events, which limits the success rate. Through SMRT sequencing and structural variability algorithms developed by his institution, scientists can use the low-coverage, long-read PacBio sequencing to delve into the genetic basis of Mendelian genetic disease. The team led by Paul Hagerman of the University of California, Davis, completed the sequencing of the pathogenic CGG repeat allele of the FMR1 gene on the X chromosome for the first time. This gene is associated with Fragile X syndrome, which was previously thought to be unsequencing, but PacBio has successfully interpreted this highly repetitive region, which is useful for screening and counseling for carriers, and is also expected to improve fragile X synthesis. Diagnosis and treatment of the sign. Scientists in North Carolina have generated the first high-quality sequence of the MUC5AC gene, which is associated with a variety of diseases, including cystic fibrosis. Due to its highly complex and repetitive exons, this gene has been expressed as a gap in the human reference genome. Identification of sequence variations in the MUC5AC gene and exons will contribute to the genetic and functional studies of this respiratory mucin. Bobby Sebra of Icahn Medical School recently introduced targeted sequencing of the C9orf72 site at the AGBT conference. This site contains GGGGCC repeat amplification, which causes familial amyotrophic lateral sclerosis, commonly known as gradual freezing. He showed sequencing data from the PacBio RS II platform and the Sequel system, showing that they were able to fully identify the sequence at this site and provide new insights into the genetics behind the disease. The University of Florida's Tetsuo Ashizawa and Karen McFarland have also made progress in the study of spinocerebellar ataxia type 10 (SCA10). In a recently published paper, they sequenced a pentanucleotide repeat allele known to cause the disease, identifying various repetitive interrupt motifs associated with different clinical phenotypes of SCA10. Congratulations to these scientists and their contributions to the Institute of Rare Diseases. It is hoped that these advances will improve the diagnosis and treatment of rare diseases and help more families. Elisa kit, imported elisa kit, elisa kit, imported serum, imported reagent, gelatin zymography test kit, rat elisa test kit, human elisa test kit-Nanjing Xinfan Biotechnology Co., Ltd.