Genetics of Rare Autoimmune Diseases
暫譯: 罕見自體免疫疾病的遺傳學
Martin, Javier, Carmona, Francisco David
- 出版商: Springer
- 出版日期: 2019-06-11
- 售價: $4,540
- 貴賓價: 9.5 折 $4,313
- 語言: 英文
- 頁數: 272
- 裝訂: Hardcover - also called cloth, retail trade, or trade
- ISBN: 3030039331
- ISBN-13: 9783030039332
海外代購書籍(需單獨結帳)
相關主題
商品描述
The main aim of this volume is to provide an updated overview of the genetic basis of a group of complex disorders that are considered rare individually, but show a relatively high prevalence on the whole in developed countries: the rare autoimmune diseases. These are chronic disorders that involve long and expensive treatments with considerable side effects that may dramatically reduce the quality of life of affected people. Therefore, shedding light into their pathologic mechanisms is a major concern given their growing social and economic awareness and impact.
General sections include different chapters on single entities as systemic lupus and sclerosis, Beh et's disease, Sjogren's syndrome and polymiositis, and sections devoted to autoimmune vasculitis, hepatic autoimmune conditions, as well as those affecting the nervous system, and a concluding chapter in which the shared predisposition amongst all diseases is discussed. All the chapters are given a homogeneous scheme in which the authors explain the clinical singularities of every disease and report the recent breakthrough discoveries related to them, giving a critical interpretation and suggesting future perspectives. All contributors are renowned researchers with high expertise in each disease. Due to the exponential increase in our understanding of the genetic causes of these complex diseases, a major advance in biomedical discovery is taking place. However, most of the achievements in this field are very recent and there is a lack of bibliography gathering them together. This book is thus filling a gap and will prove a useful companion to clinicians in the first place (internists, rheumatologists, clinical immunologists, and hematologists) but also to basic and applied researchers.
商品描述(中文翻譯)
本卷的主要目的是提供一個更新的概述，關於一組被視為個別罕見但在發達國家整體上相對高發的複雜疾病的遺傳基礎：罕見自體免疫疾病。這些是慢性疾病，涉及長期且昂貴的治療，並伴隨著相當大的副作用，可能會顯著降低受影響者的生活品質。因此，揭示其病理機制是主要關注點，因為這些疾病在社會和經濟上的意識和影響日益增長。
一般部分包括不同章節，討論單一疾病如系統性紅斑狼瘡和硬皮病、貝赫切特病、肖格倫症候群和多肌炎，以及專門針對自體免疫性血管炎、肝臟自體免疫狀況以及影響神經系統的疾病的部分，並在最後一章中討論所有疾病之間的共同易感性。所有章節都遵循統一的架構，作者解釋每種疾病的臨床特徵，並報告與之相關的最新突破性發現，提供批判性解釋並建議未來的研究方向。所有貢獻者都是在各自疾病領域具有高專業知識的知名研究人員。由於我們對這些複雜疾病的遺傳原因的理解呈指數增長，生物醫學發現正發生重大進展。然而，這一領域的大多數成就都是非常近期的，缺乏將其彙集在一起的文獻。因此，本書填補了這一空白，將對臨床醫生（內科醫生、風濕病學家、臨床免疫學家和血液學家）以及基礎和應用研究人員提供有用的幫助。
作者簡介
Javier Martin is Professor of Human Genetics at the Instituto de Parasitologia y Biomedicina, Spanish National Research Council (CSIC) belonging to the Spanish Ministry of Science and Innovation. He trained at the Medical School, University of Granada (1996-1982), PhD in Immunology, Department of Immunology Hospital Virgen de las Nieves Granada (1983-1987) and Postdoctoral training, Dpt. Immunology, Mayo Clinic, Rochester, MN, USA (1987-1990). His research interest is the study of the genetic basis of complex traits and common diseases, with a special focus on human autoimmune diseases with rheumatic component. We aim at identifying novel disease loci and provide functional and clinical relevance for Systemic Sclerosis, Rheumatoid Arthritis and Giant Cell Arteritis through genome-wide association studies (GWAS) and next generation sequencing (NGS) approaches. He is the author of more than 500 scientific publications, and Principal Investigator of 25 national and international grants.
F. David Carmona is a "Ramón y Cajal" researcher of the Department of Genetics and the Institute of Biotechnology of the University of Granada, Spain. Although his scientific career has been relatively multidisciplinary, Genetics has been always a common topic in his research. He obtained his PhD at the Department of Genetics of the University of Granada. Afterwards, he did a first postdoc in the "Institute of Medical Sciences" of the University of Aberdeen (UK). From 2010 to 2016, he worked at the "Institute of Parasitology and Biomedicine López-Neyra" (CSIC, Spain) in Javier Martin's group. He was mostly motivated by the study of the genetic basis of complex diseases, especially vasculitides. In this regard, he was directly involved in the recent publications of the two first large-scale genetic analyses on giant cell arteritis. Currently, he is PI of a research grant of the Spanish Ministry of Science and Innovation aimed at unravelling the genetic component of non-obstructive azoospermia. He has published more than 50 papers in JRC journals.
作者簡介(中文翻譯)
哈維爾·馬丁（Javier Martin）是西班牙國家研究委員會（CSIC）下屬的寄生蟲學與生物醫學研究所的人類遺傳學教授，該機構隸屬於西班牙科學與創新部。他在格拉納達大學醫學院接受訓練（1996-1982），獲得免疫學博士學位，於格拉納達 Virgen de las Nieves 醫院的免疫學系進行研究（1983-1987），並在美國明尼蘇達州羅切斯特的梅奧診所（Mayo Clinic）免疫學部門進行博士後訓練（1987-1990）。他的研究興趣在於複雜性狀和常見疾病的遺傳基礎，特別專注於具有風濕成分的人類自體免疫疾病。我們的目標是通過全基因組關聯研究（GWAS）和下一代測序（NGS）方法，識別新的疾病位點，並提供系統性硬皮病、類風濕性關節炎和巨細胞動脈炎的功能和臨床相關性。他是500多篇科學出版物的作者，並擔任25項國內外資助計畫的首席研究員。
F. 大衛·卡莫納（F. David Carmona）是西班牙格拉納達大學遺傳學系及生物技術研究所的「拉蒙·卡哈爾」（Ramón y Cajal）研究員。儘管他的科學職業生涯相對多學科，但遺傳學始終是他研究中的共同主題。他在格拉納達大學的遺傳學系獲得博士學位。之後，他在阿伯丁大學（University of Aberdeen, UK）的醫學科學研究所進行了第一次博士後研究。從2010年到2016年，他在哈維爾·馬丁的團隊中於西班牙的「洛佩斯-內拉寄生蟲學與生物醫學研究所」（CSIC）工作。他主要受到複雜疾病遺傳基礎研究的驅動，特別是血管炎。在這方面，他直接參與了兩項關於巨細胞動脈炎的首次大規模遺傳分析的近期出版物。目前，他是西班牙科學與創新部一項研究資助計畫的首席研究員，旨在揭示非阻塞性無精症的遺傳成分。他在JRC期刊上發表了50多篇論文。
