Conference on Genotype to Phenotype: Focus on Disease

基因型到表型会议：聚焦疾病

• 批准号: 6446623
• 负责人: UTA FRANCKE
• 金额: $ 1.8万
• 依托单位: KEYSTONE SYMPOSIA
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-02-01 至 2002-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6446623
• 关键词: genetic disorder; meeting /conference /symposium; molecular pathology; travel

DESCRIPTION (provided by applicant): In the post-genome era, the greatest challenge is to unravel the mechanisms by which mutant genes or genes present in abnormal dosage, lead to disease phenotypes or predispositions to common disorders. The combined use of molecular and cell biology with informatics and the generation of animal models is making rapid inroads in disease gene identification and elucidation of the molecular basis of disease. Knowledge of developmental and signaling pathways gained in model organisms is translated into understanding human disease mechanisms. New paradigms need to be developed to handle the wealth of information provided by the genome sequence and by expression profiling strategies to systematically approach the study of common and rare diseases. This symposium will survey the recent advances in understanding the molecular pathogenesis of selected disorders caused by single gene mutations, complex multigenic predispositions or gene dosage imbalances. Leading experts from around the world have been invited to represent these topic areas. Individual sessions will focus on: Using single-gene diseases to understand mechanisms, disease caused by abnormal gene dosage, mechanisms of abnormal neurodevelopment, epigenetic mechanisms in disease, SNP analyses and other approaches to complex disorders. Time on the program has been reserved to accommodate new discoveries and novel approaches to therapy. The major goal of the conference is to bring together clinical scientists, molecular geneticists and computational biologists to focus on the collaborative opportunities between the scientific disciplines. The breadth of the program will broaden the horizons of all participants in one or another area. Trainees at various levels, graduate students, postdocs and clinical fellows, will benefit from discussions of concepts. techniques, resources and approaches as they arise in different disciplines. In scope and orientation, this conference is unlike any others that have been organized recently. It is timely and its impact will likely be high.

描述（由申请人提供）： 在后基因组时代，最大的挑战是通过以下方法来解开这些机制： 哪些突变基因或基因以异常剂量存在，导致疾病 表型或常见疾病的易感性。的组合使用 分子和细胞生物学与信息学和动物模型的生成 在疾病基因鉴定和阐明 疾病的分子基础 在模式生物中获得的发育和信号传导途径的知识是 转化为对人类疾病机制的了解。新的模式需要 能够处理基因组提供的大量信息 序列和表达谱分析策略，系统地探讨 研究常见病和罕见病。 本次研讨会将调查最近的进展，了解分子 由单基因突变引起的选定疾病的发病机制，复杂 多基因倾向或基因剂量失衡。知名专家根据 邀请了世界各地的专家代表这些专题领域。个人 会议将重点关注：利用单基因疾病来了解机制， 基因剂量异常引起的疾病，基因剂量异常的机制 神经发育，疾病的表观遗传机制，SNP分析和其他 治疗复杂疾病的方法节目时间已经预留给 适应新的发现和新的治疗方法。 会议的主要目标是汇集临床科学家， 分子遗传学家和计算生物学家专注于 科学学科之间的合作机会。的广度 该计划将拓宽一个或另一个所有参与者的视野 区各级培训人员，研究生，博士后和临床 各位研究员将受益于对概念的讨论。技术、资源和 方法，因为它们出现在不同的学科。在范围和方向上， 这次会议不同于最近组织的任何其他会议。是 及时，其影响可能会很大。