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"Retinal Dystrophy Genetic Map" translated by Prof. Lei Bo was officially published

Posting time:2023-01-31 08:50:30

"Retinal Dystrophy Genetic Map" translated by Prof. Lei Bo was officially published

Editor's note: With the rapid progress of next-generation high-throughput sequencing technology and gene therapy technology, the field of gene therapy for inherited retinal degenerative diseases (IRD) has also made great progress. In 2017, the first gene therapy drug for the treatment of congenital amaurosis was approved by the U.S. Food and Drug Administration (FDA), which was another milestone in the history of medical development. At present, more than 300 causative genes have been found to cause hereditary retinal dystrophy (RD). Due to the strong genetic heterogeneity and heterogeneity of clinical manifestations, these diseases have brought many challenges to clinical diagnosis. . Today, most of the few monographs on hereditary eye diseases start with the clinical diagnosis and manifestation of the disease, and fail to describe the disease with genes as the main line. However, gene therapy needs to understand related diseases from the perspective of genes. "Gene Map of Retinal Dystrophy" is the first monograph to describe hereditary retinal diseases with genes as the main line. Led the hereditary eye disease team to translate the book, after four times of proofreading and revision, it was officially published on July 1. The translation is as faithful as possible to the original work, and the essence of the original work is passed on to readers, in order to deepen the understanding and understanding of eye diseases caused by genes among Chinese ophthalmologists, and promote the progress of the field of hereditary retinal diseases in China. ‍Academician Yang Zhenglin recommended that RD, also known as IRD, is a type of neurodegenerative disease that affects millions of people around the world. The main pathological feature of these diseases is the irreversible degeneration of nerve cells in the retina, which causes vision loss and even blindness, which is one of the main causes of irreversible blindness. In addition, due to the difficulty of accurate diagnosis and the lack of effective treatment methods, these diseases are also the main ophthalmological critical and intractable diseases in ophthalmology. Inherited retinal diseases are closely related to pathogenic variants in genes that follow dominant, negative, and sex-linked patterns. Depending on whether RD affects the retina alone or occurs in combination with other systemic diseases, the disease can be divided into two categories: nonsyndromic RD (also known as isolated RD) and syndromic RD. Common non-syndromic RDs include retinitis pigmentosa (RP), cone-rod dystrophy, Leber congenital amaurosis (LCA), and Best's disease. Common syndromic RD include Usher syndrome and Bardet-Biedl syndrome. Although the vast majority of inherited retinal diseases are still incurable, the pace of human exploration of accurate diagnosis and treatment has never stopped. Since the beginning of the 21st century, the emergence of next-generation sequencing (NGS) and even third- and fourth-generation sequencing technologies has completely changed the diagnosis method of genetic diseases, and the diagnosis of diseases has reached an unprecedented new level. Knowledge of the human genome and the application of various new technologies have revealed a large number of new genotype and clinical phenotype relationships. The discovery and verification of numerous new pathogenic genes and new pathogenic variants has provided a guarantee for the accurate diagnosis of hereditary eye diseases. To date, more than 260 genes associated with inherited retinal diseases have been identified, and more disease-causing genes and disease-causing variants are continually being discovered. In terms of treatment, doctors and scientists in various countries are also stepping up the research and development of precise gene therapy and non-specific treatment methods for disease-causing genes and disease-causing variants, and dozens of clinical trials of gene therapy are being carried out. It is foreseeable that in the next 5 to 10 years, a batch of gene therapy drugs will be used in clinical practice. Whether starting from the precise genetic diagnosis of inherited retinal diseases or from the perspective of their treatment, genes are at the core. Therefore, understanding genes and their associated diseases is crucial. However, in order to meet the needs of clinical diagnosis, the previous textbooks and reference books discussed the disease-causing genes from the perspective of disease. Due to the significant genetic heterogeneity of inherited retinal diseases, the traditional disease-centric approach may lead to incomplete or omission of relevant genetic information. On the other hand, general reference books provide limited direct assistance to physicians and patients obtaining genetic test results. The book "Gene Map of Retinal Dystrophy" written by Prof. Zahid et al. is the first book to discuss inherited retinal diseases from a genetic perspective. This book lists 84 common genes that cause RD. The hereditary eye diseases caused by the gene variation can be directly inquired under each gene catalog. A large number of pictures in the book will further help readers deepen their understanding of genes and related diseases. I believe that ophthalmologists, scientific researchers, genetic counselors, all kinds of medical students, etc. will benefit from this book. Introduction to "Genetic Atlas of Retinal Dystrophy" "Genetic Atlas of Retinal Dystrophy" is the first monograph to describe hereditary retinal diseases based on genes. The book was edited by Sarwar Zahid, a well-known international ophthalmologist, and translated by the hereditary eye disease team of Professor Lei Bo from Henan Provincial People's Hospital and Henan Provincial Eye Hospital. The whole book uses refined words and rich pictures to show that genetic variation can lead to different clinical phenotypes through different inheritance methods, and introduces 84 common genes that cause RD (ie hereditary retinal degeneration), which can be reviewed from each gene chapter. Information on the pathogenic mechanism, epidemiology, and clinical manifestations of related diseases of different genes. A large number of typical cases and more than 200 imaging pictures in the book can further help readers to understand the gene and the eye disease caused by the gene. Although there are racial differences in genetic diseases, and the main data in this book are from Caucasians and Middle Eastern people, the genes included in this book are basically the same as the common causative genes of hereditary RD common in East Asians. This book not only helps clinicians and genetic disease counselors to speed up the review of the clinical manifestations of related gene variants, but also can be a very useful reference book for genetic bioinformatics analysts. At the same time, eye disease patients and their families can also learn about the development, outcome and prognosis of the disease by referring to related genes. Ophthalmologists, researchers, graduate students, graduate students, trainees, medical students, genetic counselors, bioinformatics analysts, and other genetic eye disease workers can all benefit from this book. Expert Profile Professor Lei Bo is a researcher and doctoral supervisor. Fellow of the International Association for Research in Vision and Ophthalmology (FARVO). Ph.D. from the Technion-Israel Institute of Technology, post-doctoral fellow at the University of Michigan, and assistant professor at the University of Missouri. Deputy Director of Henan Ophthalmology Research Institute, Director of Henan Provincial Eye Disease Clinical Medical Research Center, Director of Henan Branch Center of National Eye, Ear, Nose and Throat Disease Clinical Research Center, Director of Henan Provincial Ophthalmic Biomedical Engineering Research Center, Henan Provincial Ophthalmic Pharmacology and Therapeutics Director of the International Joint Laboratory, Director of the Eye Disease Research Center of the Advanced Medical Research Center of Zhengzhou University. He is the deputy head of the Visual Electrophysiology Group of the Ophthalmology Branch of the Chinese Medical Association, the deputy director of the Visual Electrophysiology Professional Committee of the Ophthalmologist Branch of the Chinese Medical Doctor Association, and the deputy director of the Ophthalmology Committee and the Rare Disease Committee of the Henan Medical Association. Member of the editorial board of Translational Vision Science and Technology, associate editor of Frontiers in Cell and Developmental Biology, editorial board member of Documenta Ophthalmologica, "Chinese Journal of Ophthalmology", "Chinese Journal of Ophthalmology" and other journals. Chief translation of "Pathological Myopia" and "Atlas of Retinal Dystrophy". Engaged in retinal disease research, focusing on the mechanism of fundus diseases and the diagnosis and treatment of hereditary eye diseases. Published 102 SCI papers.

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