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中文摘要
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 本申请是为了支持将于2016年5月28日星期六至5月30日星期一在华盛顿州西雅图的弗雷德哈钦森癌症研究中心举行的第三届生物学和疾病中RECQ解旋酶国际会议,题为“RECQ 2016- Partnering for Progress”。RECQ解旋酶在人类DNA代谢和基因组稳定性的许多方面发挥重要作用,并且与Bloom、Werner和Rothmund-Thomson综合征相关,这些综合征都具有强烈的癌症倾向。目标:我们的会议目标是提高对人类细胞中RECQ解旋酶功能的理解;确定RECQ功能的丧失如何促进癌症和其他相关表型;并确定最重要的临床和研究重点,以促进RECQ基础和转化研究并改善临床护理。目的:我们将通过解决以下目标/重点领域来实现我们的目标:目标1:了解功能和疾病发病机制目标2:发展研究伙伴关系目标3:确定研究优先事项目标4:教育-侧重于患者,家庭和护理人员目标5:培训-侧重于初级和新的研究人员和临床医生我们将召集1035名演讲者/小组成员,患者,家庭成员,护理人员和基金会/支持团体,为期三天,重点突出,高度互动。将同时举行科学报告和家庭会议,分享主题演讲,海报预览和海报会议和小组。重要性:本次会议具有独特的地位,通过将专注于RECQ生物学和疾病的研究人员与患者,家属和护理人员聚集在一起来促进研究。我们的目标是整合基础和临床科学,并在制定未来工作的优先事项时纳入患者,家属和护理人员的独特视角。健康相关性:这次会议反映了RECQ解旋酶在人类生物学和疾病中日益重要的作用,以及需要更好地了解RECQ解旋酶综合征的机制起源,以了解疾病相关性并改善临床护理。
英文摘要
 DESCRIPTION (provided by applicant) Abstract: This application is to support the 3rd International Meeting on RECQ Helicases in Biology and Disease, titled 'RECQ2016 - Partnering for Progress', to be held at the Fred Hutchinson Cancer Research Center in Seattle, WA from Saturday 28 May to Monday 30 May 2016. The RECQ helicases play important roles in many aspects of human DNA metabolism and genomic stability, and are linked to Bloom, Werner and Rothmund- Thomson syndromes that all share a strong cancer predisposition. Goals: Our meeting goals are to improve understanding of RECQ helicase function in human cells; to deter- mine how the loss of RECQ function promotes cancer and other associated phenotypes; and to identify top clinical and research priorities to foster RECQ basic and translational research and improve clinical care. Aims: We will achieve our goals by addressing each of the following Aims/focus areas: Aim 1: Understand function and disease pathogenesis Aim 2: Develop research partnerships Aim 3: Identify research priorities Aim 4: Education - focused on patients, families and caregivers Aim 5: Training - focused on junior and new investigators and on clinicians Program Structure: We will convene 35 speakers/panelists, patients, family members, care givers and foundation/support groups for three focused and highly interactive days. There will be concurrent scientific presentations and Family meetings, with shared keynote talks, poster preview and poster sessions and panels. Significance: This conference is uniquely positioned to catalyze research by bringing together investigators focused on RECQ biology and disease with patients, families and caregivers. We aim to integrate basic and clinical science and incorporate the unique perspective of patients, families and caregivers in developing priorities for future work. Health relatedness: This meeting reflects the growing importance of RECQ helicases in human biology and disease, and the need to better understand the mechanistic origins of the RECQ helicase syndromes to understand disease associations and improve clinical care.
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Functional phenotyping of human genetic variation
  • 批准号:
    9001359
  • 项目类别:
  • 资助金额:
    $38.63万
  • 财政年份:
    2014
  • 负责人:
    RAYMOND J MONNAT
  • 依托单位:
Administrative and Statistical Core
  • 批准号:
    8277947
  • 项目类别:
  • 资助金额:
    $8.94万
  • 财政年份:
    2011
  • 负责人:
    RAYMOND J MONNAT
  • 依托单位:
Functional Genomics
  • 批准号:
    8277943
  • 项目类别:
  • 资助金额:
    $27.19万
  • 财政年份:
    2011
  • 负责人:
    RAYMOND J MONNAT
  • 依托单位:
Administrative and Statistical Core
  • 批准号:
    7747286
  • 项目类别:
  • 资助金额:
    $6.8万
  • 财政年份:
    2009
  • 负责人:
    RAYMOND J MONNAT
  • 依托单位:
海外基金