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，每年由儿童肿瘤基金会（CTF）举办了神经纤维瘤病（NF）会议。其根源是一个名为“ NF联盟”的小组聚会，致力于将神经原纤维群的基因献给了NF nf nf inf nf inf the Friend and Friend and thry Frone and thry Friending and thry Friending and thry Friending and thry Friend and thre Frone and thref infor nf threforn and thref。这次会议被认为是国际NF研究人员和医生的主要年度聚会。促进这种增长的主要贡献者是近年来NF研究的重大进展，尤其是最近在临床试验和药物治疗开发中的进步。另外，州 当时的基因组方法已经确定了NF基因的突变是对多种类型的零星癌症的贡献者，包括河马和RAS级联反应在内的信号通路与NF有关，现在已经认识到，RAS途径的基因中的突变导致NF1的一组疾病，包括NF1，包括“ Rasopopate”。传统上，近年来，NF会议是研究信息交流和共识建设论坛，也是关于神经纤维瘤病临床前治疗管道报告和神经纤维瘤病临床试验扩展领域的主要国际论坛。 公共卫生相关性：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。它通过担任神经纤维瘤病社区的研究人员和临床医生的年度聚会，在加速神经纤维瘤病研究进步中发挥lynchpin的作用。该会议为来自世界各地的神经纤维瘤病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。它促进了协作和共识建设，无疑在转化研究的进步方面产生了不断增长的NF临床试验，我们的社区今天拥有的NF临床试验。会议出勤率从2005年的120名与会者增加了一倍，达到2011年的300多名与会者。这是由将新信号通路集成到NF研究中的驱动的，对零星疾病中NF途径的欣赏以及不断扩展的临床前和临床议程作为Neurofibromatisosion的扩展。 25年来，每年由儿童肿瘤基金会组织并召集了一次神经纤维瘤病研究会议，提供了一个论坛，将基本和临床NF研究人员汇集在一起​​，以分享最新的研究进度，并关注NF研究环境中的关键问题。直到2006年被称为NF财团，这次会议在2007年被重新命名为“ NF会议”，以提高知名度并扩大出勤率。会议一直包括NF的高调主题演讲者。在过去的几年中，我们增加了来自癌症研究，神经科学等其他领域的知名人士的存在，以刺激思想并建立NF与其他疾病之间的联系。此外，我们还提高了年轻NF研究人员的NF会议上的存在，许多人在基金会的年轻调查员奖计划的支持下，确保了每年一部分的平台演示插槽。 NF会议为合作提供了独特的机会，在过去的几年中，从很大程度上的基础研究重点扩展到了分享NF转化研究以及临床前和临床试验的最新论坛。但是，即使将120多名与300多名参与者增长，该基金会仍在努力在NF会议上保持亲密的精品挑选感，以确保讨论和互动。可以在http://www.ctf.org/for-scientists/nf-conference.html上在线查看以前NF会议的摘要书籍和摘要报告。关于神经纤维瘤病和新兴的治疗疗法神经纤维瘤病是一组遗传疾病-NF1，NF2和Schwannamatosis-统称为“ NF”。 NF会导致肿瘤在神经系统中的任何地方生长；尽管在很大程度上是良性的，但10-15％的人将变得恶性。即使是NF的良性肿瘤，由于它们的持续生长和经常出现手术无法获得性，也会引起明显的发病率甚至死亡率。 NF还会引起骨骼异常，耳聋，失明，疼痛，心脏缺陷，并且在60％的情况下，学习障碍。 NF影响美国估计有100,000人。 NF1是影响1：3,000分的最主要的； NF2影响1：25,000分。 NF1和NF2是常染色体主导者：新病例中有50％是由没有家族史的自发突变引起的。 Schwannomatsis会影响估计的1：40,000个出生，尚未得到很好的了解。 NF1和NF2的遗传学和分子生物学知之甚少。使用对信号缺陷和分子变化疗法的理解。由于鉴定出候选基因INI1，因此对造粉瘤病的理解正在发展。该疾病也可能与NF2和其他基因有关。 2008年，随着鉴定另一种与Chr上的SPRED1基因突变相关的NF1样疾病，NF临床局势进一步扩展。 15，并带有“轻度” NF1的临床表现。 NF还没有有效的药物治疗，但是在过去的几年中，已经开始了多次临床试验。现在，在www.clinicaltrials.gov上列出了超过25次开放的NF特定试验，该试验由DOD NF临床试验财团（儿童肿瘤基金会）资助；以及包括NIH资金在内的其他来源。