2012 Neurofibromatosis (NF) Conference

2012年神经纤维瘤病（NF）会议

• 批准号: 8400330
• 负责人: Brigitte Widemann
• 金额: $ 2万
• 依托单位: CHILDREN'S TUMOR FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-07-01 至 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8400330
• 关键词: Address; Affect; American; Area; Award; Basic Science; Benign; Birth; Blindness; Books; Candidate Disease Gene; Cells; Cellular biology; Child; Child Support; Clinic; Clinical; Clinical Sciences; Clinical Trials; Collaborations; Communities; Congenital Heart Defects; Consensus; Continuing Education; Defect; Disease; Doctor of Medicine; Educational workshop; Ensure; Family history of; Film; Fostering; Foundations; Funding; Gene Mutation; Genes; Genetic; Genomics; Goals; Growth; Hereditary Disease; Hour; International; Interview; Journals; Learning Disabilities; Link; Louisiana; Malignant - descriptor; Malignant Neoplasms; Medical Genetics; Medical Research; Mind; Molecular; Molecular Biology; Morbidity - disease rate; Mutation; Nervous system structure; Neurofibromatoses; Neurofibromatosis 2; Neurofibromin 2; Neurosciences; Newsletter; Nurses; Operative Surgical Procedures; Pain; Pathway interactions; Peer Review; Persons; Pharmaceutical Preparations; Pharmacotherapy; Phase; Physicians; Plant Roots; Play; Professional counselor; Publications; Publishing; Reporting; Request for Applications; Research; Research Personnel; Role; SMARCB1 gene; Schwannomatosis; Scientist; Signal Pathway; Signal Transduction; Source; Summary Reports; Syndrome; Therapeutic; Time; Translational Research; United States National Institutes of Health; Vertebral column; Work; abstracting; anticancer research; bench to bedside; bone; cancer cell; deafness; design; gene cloning; lectures; medical specialties; meetings; mortality; nervous system disorder; posters; pre-clinical; programs; symposium; therapy development; tumor; tumor growth; web site; working group

DESCRIPTION (provided by applicant): The Neurofibromatosis (NF) Conference has been organized by the Children's Tumor Foundation (CTF) annually since 1985. With its roots in a small workshop-style gathering of a group called the "NF Consortium" dedicated to cloning the genes underlying the Neurofibromatoses, the NF Conference has grown to a gathering of three hundred NF researchers and clinicians from around the world. This meeting is recognized as the premier annual gathering of international NF researchers and physicians. Major contributors to this growth are the significant advances made in NF research in recent years and, particularly, recent advances into clinical trials and drug therapy development. In addition, state of-the-art genomic approaches have identified mutations in the NF genes as contributors to numerous types of sporadic cancers, signaling pathways including the Hippo and Ras cascades are implicated in NF, and it is now recognized that mutations in genes along the Ras pathway result in a set of disorders, including NF1, called the "Rasopathies". Traditionally a forum for research information exchange and consensus building, in recent years the NF Conference is also the principal international forum for reporting on the neurofibromatosis preclinical therapeutic pipeline and the expanding arena of neurofibromatosis clinical trials. PUBLIC HEALTH RELEVANCE: The Children's Tumor Foundation NF Conference has a remarkable presence in the neurofibromatosis community. It plays a lynchpin role in accelerating neurofibromatosis research progress by serving as the premier annual gathering of researchers and clinicians in the neurofibromatosis community. The Conference provides a forum for research information exchange and discussion for neurofibromatosis researchers and clinicians from around the world. It fosters collaboration and consensus building, and has undoubtedly aided in the advances in translational research that have yielded the growing pipeline of NF clinical trials our community has today. Conference attendance has doubled from 120 attendees in 2005 to over 300 attendees in 2011. This has been driven by integration of new signaling pathways into NF research, the appreciation for NF pathways in sporadic diseases, and an expanding pre-clinical and clinical agenda component as the neurofibromatosis field progresses bench to bedside. For over 25 years a neurofibromatosis research meeting has been organized and convened annually by the Children's Tumor Foundation, providing a forum to bring together basic and clinical NF investigators to share the latest research progress and focus on key issues in the NF research landscape. Until 2006 known as the NF Consortium, the meeting was re-branded in 2007 as "The NF Conference" to increase visibility and expand attendance. The meeting has always included high-profile keynote speakers from NF. Over the past few years, we have increased the presence of high-profile speakers from other areas of cancer research, neuroscience etc., to stimulate ideas and build connections between NF and other disorders. In addition we have elevated the presence at the NF Conference of young NF researchers, many supported by the Foundation's Young Investigator Award program, ensuring platform presentation slots for a proportion of these each year. The NF conference offers a unique opportunity for collaboration and, over the past couple of years has expanded from a largely basic research focus to also become the forum for sharing the latest in NF translational research and pre-clinical and clinical trials. However, even with ths growth from 120 to over 300 attendees, the Foundation has strived to keep an intimate boutique feel to the NF Conference to ensure discussion and interaction. Abstract Books and summary reports from prior NF Conferences can be viewed online at http://www.ctf.org/For-Scientists/nf-conference.html. About Neurofibromatosis and Emerging Therapeutics Neurofibromatosis is a group of genetic disorders - NF1, NF2, and schwannamatosis - collectively known as "NF". NF causes tumors to grow anywhere in the nervous system; and though largely benign, 10-15% will become malignant. Even the benign tumors of NF can cause significant morbidity and even mortality because of their continuous growth and often surgical inaccessibility. NF can also cause bone abnormalities, deafness, blindness, pain, heart defects, and in 60% of cases, learning disabilities. NF affects an estimated 100,000 persons in the US. NF1 is the most predominant affecting 1:3,000 births; NF2 affects 1:25,000 births. NF1 and NF2 are autosomal dominant: fifty percent of new cases arise from spontaneous mutations with no family history of the disorder. Schwannomatosis affects an estimated 1:40,000 births and is not well understood. The genetics and molecular biology of NF1 and NF2 are fairly well understood. Using understanding of signaling defects and molecular changes therapies are being proposed. Understanding of Schwannomatosis is progressing since a candidate gene INI1 was identified. This disorder may also be linked to NF2 and other genes. In 2008, the NF clinical landscape was further expanded with the identification of another NF1-like disorder, Legius Syndrome, associated with a SPRED1 gene mutation on Chr. 15, and with a clinical presentation of "mild" NF1. There are no effective drug treatments for NF yet, but over the past several years multiple clinical trials have been initiated. Over 25 open NF specific trials are now listed on www.clinicaltrials.gov, funded by the DOD NF Clinical Trials Consortium, the Children's Tumor Foundation; and by additional sources including NIH funds.

描述(申请人提供)：神经纤维瘤病(NF)会议自1985年以来每年由儿童肿瘤基金会(CTF)组织。该会议起源于一个名为“神经纤维瘤联盟”的小型研讨会式的聚会，该组织致力于克隆神经纤维瘤病的潜在基因。如今，神经纤维瘤大会已发展成为来自世界各地的三百名神经纤维瘤研究人员和临床医生的聚集地。这次会议被公认为国际核因子研究人员和医生的主要年度聚会。这一增长的主要贡献者是近年来在核因子研究方面取得的重大进展，特别是在临床试验和药物治疗开发方面的最新进展。此外，国家 最先进的基因组学方法已经发现，核因子基因的突变与多种类型的散发性癌症有关，包括河马和RAS级联信号通路在内的信号通路与核因子有关，现在人们认识到，沿着RAS通路的基因突变会导致一系列疾病，包括NF1，称为Rasopathies。传统上是研究信息交流和建立共识的论坛，近年来，神经纤维瘤会议也是报告神经纤维瘤病临床前治疗流程和不断扩大的神经纤维瘤病临床试验领域的主要国际论坛。 公共卫生相关性：儿童肿瘤基金会核因子会议在神经纤维瘤病社区中有显著的存在。它作为神经纤维瘤病研究人员和临床医生的主要年度聚会，在加快神经纤维瘤病的研究进展方面发挥了关键作用。会议为来自世界各地的神经纤维瘤研究人员和临床医生提供了一个研究、信息交流和讨论的论坛。它促进了合作和共识的建立，并无疑促进了转化研究的进步，从而产生了我们社区今天正在进行的越来越多的核因子临床试验。会议出席人数从2005年的120人增加到2011年的300多人，翻了一番。这是由于将新的信号通路整合到核因子研究中，对散发性疾病中的核因子通路的认识，以及随着神经纤维瘤病领域从病床到工作台的发展，扩大了临床前和临床议程部分。25年来，儿童肿瘤基金会每年组织召开一次神经纤维瘤病研究会议，提供一个论坛，将基础和临床研究人员聚集在一起，分享最新的研究进展，并专注于NF研究领域的关键问题。在2006年之前，该会议被称为核力量联盟，2007年被重新命名为“核力量会议”，以提高知名度和扩大出席人数。会议一直有来自法国外交部的高调主旨演讲者。在过去的几年里，我们增加了来自癌症研究、神经科学等其他领域的知名演讲者的存在，以激发想法，并在神经营养不良和其他疾病之间建立联系。此外，我们还增加了年轻的研究人员参加NF会议的人数，其中许多人得到了基金会的青年研究员奖计划的支持，确保每年有一定比例的平台演讲时段。核因子会议提供了一个独特的合作机会，在过去的几年里，它已经从主要关注基础研究扩展为分享核因子翻译研究以及临床前和临床试验的最新成果的论坛。然而，即使与会者从120人增加到300多人，基金会仍努力保持一种与NF会议密切相关的精品感觉，以确保讨论和互动。以前的核问题会议的摘要书籍和摘要报告可以在http://www.ctf.org/For-Scientists/nf-conference.html.上在线查看神经纤维瘤病是一组遗传性疾病--NF1、NF2和神经鞘瘤病--统称为“神经纤维瘤”。核因子会导致肿瘤在神经系统的任何地方生长；虽然大部分是良性的，但10%-15%会变成恶性。即使是良性肿瘤，由于其持续生长并经常无法手术，也会导致严重的并发症甚至死亡。核因子还会导致骨骼异常、耳聋、失明、疼痛、心脏缺陷，在60%的病例中还会导致学习障碍。据估计，美国有10万人受到神经营养不良的影响。NF1是影响1：3,000名新生儿的最主要因素；NF2影响1：25,000名新生儿。NF1和NF2是常染色体显性遗传：50%的新病例是由自发突变引起的，没有这种疾病的家族病史。神经鞘瘤病影响了大约1：40,000名新生儿，目前还不清楚。NF1和NF2的遗传学和分子生物学已被很好地理解。利用对信号缺陷和分子变化的理解，正在提出治疗方法。自从候选基因INI1被发现以来，对神经鞘瘤病的认识正在取得进展。这种疾病也可能与NF2和其他基因有关。2008年，随着发现了另一种NF1样疾病--军团综合征，与Chr上的SPRED1基因突变相关，进一步扩大了NF的临床应用范围。15岁，临床表现为“轻度”NF1。目前还没有治疗神经炎的有效药物，但在过去的几年里，已经开始了多项临床试验。现在有超过25项公开的特定于核因子的试验在www.Clinicaltrials.gov上列出，这些试验由国防部核因子临床试验联盟、儿童肿瘤基金会以及包括NIH基金在内的其他来源提供资金。