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（由申请人提供）：自 1985 年以来，神经纤维瘤病 (NF) 会议每年由儿童肿瘤基金会 (CTF) 举办。其根源在于一个名为“NF 联盟”的致力于克隆的团体的小型研讨会式聚会神经纤维瘤病背后的基因，神经纤维瘤会议已发展到聚集了来自世界各地的 300 名神经纤维瘤研究人员和临床医生。这次会议被认为是国际神经纤维瘤研究人员和医生的首要年度聚会。这一增长的主要贡献者是近年来 NF 研究取得的重大进展，特别是临床试验和药物治疗开发的最新进展。此外，声明 最先进的基因组方法已确定 NF 基因突变是多种散发性癌症的诱因，包括 Hippo 和 Ras 级联在内的信号通路与 NF 相关，现在人们认识到 Ras 通路上的基因突变会导致包括 NF1 在内的一系列疾病，称为“Rasopathies”。传统上，NF 会议是研究信息交流和建立共识的论坛，近年来，它也是报告神经纤维瘤病临床前治疗管道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。 公共健康相关性：儿童肿瘤基金会 NF 会议在神经纤维瘤病社区中具有显着的影响力。它作为神经纤维瘤病界研究人员和临床医生的首要年度聚会，在加速神经纤维瘤病研究进展方面发挥着关键作用。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，并且无疑有助于转化研究的进步，这些研究使我们社区今天拥有越来越多的 NF 临床试验。会议出席人数翻了一番，从 2005 年的 120 名与会者增加到 2011 年的 300 多名与会者。这是由于将新的信号传导通路纳入 NF 研究、对散发性疾病中的 NF 通路的认识以及不断扩大的临床前和临床议程组成部分所推动的。神经纤维瘤病领域从实验室进展到临床。 25 年来，儿童肿瘤基金会每年都会组织和召开神经纤维瘤病研究会议，提供一个论坛，将基础和临床 NF 研究人员聚集在一起，分享最新的研究进展，并重点关注 NF 研究领域的关键问题。该会议在 2006 年之前称为 NF 联盟，并于 2007 年更名为“NF 会议”，以提高知名度并扩大出席人数。会议上始终有来自 NF 的高调主讲嘉宾。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数量，以激发想法并建立神经纤维瘤和其他疾病之间的联系。此外，我们还提高了年轻 NF 研究人员在 NF 会议上的参与度，其中许多研究人员得到了基金会青年研究者奖计划的支持，确保每年为其中一部分提供平台演讲机会。 NF 会议提供了独特的合作机会，在过去的几年里，它已从主要的基础研究重点扩展到共享 NF 转化研究以及临床前和临床试验最新成果的论坛。然而，即使与会者人数从 120 人增加到 300 多人，基金会仍努力保持 NF 会议的亲密精品感觉，以确保讨论和互动。摘要 先前 NF 会议的书籍和摘要报告可在线查看：http://www.ctf.org/For-Scientists/nf-conference.html。关于神经纤维瘤病和新兴疗法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“NF”。神经纤维瘤（NF）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。即使是神经纤维瘤的良性肿瘤，由于其持续生长且通常无法手术切除，也可能导致显着的发病率甚至死亡。神经纤维瘤还会导致骨骼异常、耳聋、失明、疼痛、心脏缺陷，并且在 60% 的情况下会导致学习障碍。 NF 影响了美国约 100,000 人。 NF1 是影响 1:3,000 新生儿的最主要因素； NF2 影响 1:25,000 的新生儿。 NF1 和 NF2 是常染色体显性遗传：百分之五十的新病例由自发突变引起，没有该疾病的家族史。神经鞘瘤病影响估计 1:40,000 的新生儿，但目前尚不清楚。 NF1 和 NF2 的遗传学和分子生物学已相当了解。人们正在提出利用对信号缺陷和分子变化的理解来进行治疗。自从候选基因 INI1 被确定以来，对神经鞘瘤病的了解正在不断进展。这种疾病也可能与 NF2 和其他基因有关。 2008 年，随着另一种 NF1 样疾病 Legius 综合征的发现，NF 的临床前景进一步扩大，该疾病与 Chr. 上的 SPRED1 基因突变相关。 15，并具有“轻度”NF1 的临床表现。目前还没有治疗 NF 的有效药物，但在过去几年中已经启动了多项临床试验。 www.clinicaltrials.gov 上现已列出了超过 25 个开放式 NF 特定试验，这些试验由 DOD NF 临床试验联盟、儿童肿瘤基金会资助；以及包括 NIH 基金在内的其他来源。