PXE International Research Meeting 2016
PXE International Research Meeting 2016
批准号:
9195046
负责人:
SHARON F. TERRY
金额:
$2.0万
依托单位:
依托单位国家:
美国
项目类别:
财政年份:
2016
资助国家:
美国
项目状态:
已结题
起止时间:
2016-09-01 至 2017-08-31
关键词:
Adenosine MonophosphateAdenosine TriphosphateAdvocateAffectAnimal ModelAreaAttentionBasic ScienceBloodCardiologyCardiovascular DiseasesCellsClinical InvestigatorClinical SciencesClinical TrialsCommunitiesComplexDermatologyDiagnosticDiphosphatesDisciplineDiseaseEducational workshopFertilizationGastroenterologyGenesGoalsIn VitroIndividualInternationalInterventionLegal BlindnessLifeLiverMeasurementModelingMorbidity - disease rateMutationOphthalmologyOutcomePatient-Focused OutcomesPharmaceutical PreparationsPhenotypeProcessPseudoxanthoma ElasticumRattusResearchResearch PersonnelResearch PrioritySamplingScienceScientistSpeedTherapeuticTherapeutic InterventionTranslational ResearchWomanabstractinganalogbasebisphosphonatedisabling symptominhibitor/antagonistmeetingsmineralizationnovel therapeuticsnucleoside triphosphatesymposiumtherapy development
中文摘要
项目摘要:
--
PXE将于2016年召开国际研究会议,并将为其制定一项新的研究议程。
弹性假黄瘤(PXE)。PXE可导致法律失明、心血管疾病和其他疾病。
其他几个令人虚弱的问题症状。在这次会议上,我们将把重点放在一些有希望的问题上。
干预包括治疗。它还将为我们提供一个新的机会,以加快世界科学进程,以实现这一目标。
这些有意义的结果对生活在艾滋病患者中的人来说是有意义的。这些讨论将不会创造一个新的前景。
发展治疗的路线图,这是本次论坛的主要总目标之一。
该委员会由一个由科学家、临床医生、科学家和医学倡导者组成的一个非常不同的小组组成,他们将把他们的研究成果带给他们。
在几个关键领域的专业知识将有助于推动研讨会,以完善一个更有能力的团队和更具创意的组织。
委员会成员。
弹性假性黄色瘤(PXE)是由ABCC6基因突变引起的。
主要是在肝脏中表达。最近的研究结果表明,ABCC6对肝脏细胞功能有调节作用。
核苷和三磷酸的释放量,主要是三磷酸腺苷(ATP)。
细胞内的三磷酸腺苷被迅速转化为腺苷和一磷酸(AMP),以及大量的无机盐。
焦磷酸盐(PPI)。在对约12名患有焦磷酸盐(PPI)的人进行的一项联合抽样调查中,他们对PPI水平进行了测量。
确诊的ABCC6基因突变显示,他们的血液中PPI基因的浓度显著降低。
与健康的矿化控制相比,最有可能的是,PPI控制是矿化的关键抑制因素。
在PXE中发现了它。
从这些最近的石油发现中,已经产生了几个新的技术想法,其中一些是潜在的技术。
治疗领域。包括这些潜在的治疗靶点,可能会被证明是有效的,以减轻一些疾病的发病率。
与这种疾病相关的是,药物的再利用,已经批准的药物的使用,以及一种新颖的药物。
治疗公司的所有建议都在考虑之中。最近一次由受影响的个人参加的会议导致了问题的发生。
研究和优先事项将通过一个以病人为中心的研究结果和过程来确定。这些优先事项也将得到解决。
在这次会议上审议了这个问题。
英文摘要
Project Abstract
PXE International Research Meeting 2016 will set a research agenda for
pseudoxanthoma elasticum (PXE). PXE causes legal blindness, cardiovascular disease and
several other debilitating symptoms. This meeting will focus on some promising potential
interventions and treatments. It will also provide an opportunity to speed up the science to the
point of meaningful outcomes for people living with the disease. These discussions will create a
roadmap for developing therapy, which is the overall goal of this forum. The organizing
committee consists of a diverse group of scientists, clinicians, and advocates who will bring their
expertise in several areas to the workshop to round out a competent and creative organizing
committee.
Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. The gene is
primarily expressed in the liver. Recent findings suggest that ABCC6 regulates the cellular
release of nucleoside triphosphates, predominantly adenosine triphosphate (ATP). Outside the
cell ATP is rapidly converted into adenosine monophosphate (AMP) and inorganic
pyrophosphate (PPi). Measurements of PPi levels in a sampling of 12 individuals with
confirmed ABCC6 mutations revealed significantly lower concentrations of PPi in their blood as
compared to healthy controls. Thus, it is most likely that PPi is a key inhibitor of mineralization
found in PXE.
Several new ideas have resulted from these recent discoveries, some leading to potential
therapeutic areas. These potential targets may prove to mitigate some of the morbidity
associated with the disease. Drug repurposing, use of already approved drugs and novel
therapeutics are all being considered. A recent meeting of affected individuals resulted in
research priorities set through a patient centered outcomes process. These will also be
considered at this meeting.
期刊论文(0)
专著(0)
科研奖励(0)
会议论文
Pseudoxanthoma Elasticum Research 2010 Conference
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批准号:8195767
-
项目类别:
-
资助金额:$1.5万
-
财政年份:2010
-
负责人:SHARON F. TERRY
-
依托单位:
Pseudoxanthoma Elasticum Research 2010 Conference
-
批准号:8006489
-
项目类别:
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资助金额:$3.8万
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财政年份:2010
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负责人:SHARON F. TERRY
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依托单位:
Conference Support for Genetic Alliance
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批准号:8034983
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项目类别:
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资助金额:$9.4万
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财政年份:2009
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负责人:SHARON F. TERRY
-
依托单位:
Conference Support for Genetic Alliance
-
批准号:7750473
-
项目类别:
-
资助金额:$6.4万
-
财政年份:2009
-
负责人:SHARON F. TERRY
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依托单位:
SINGLE GENE DISORDERS RESOURCE NETWORK
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批准号:7415797
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项目类别:
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资助金额:$85.0万
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财政年份:2005
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负责人:SHARON F. TERRY
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依托单位:
SINGLE GENE DISORDERS RESOURCE NETWORK
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批准号:7402937
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项目类别:
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资助金额:$85.0万
-
财政年份:2005
-
负责人:SHARON F. TERRY
-
依托单位:
SINGLE GENE DISORDERS RESOURCE NETWORK
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批准号:7545861
-
项目类别:
-
资助金额:$85.0万
-
财政年份:2005
-
负责人:SHARON F. TERRY
-
依托单位:
SINGLE GENE DISORDERS RESOURCE NETWORK
-
批准号:7402936
-
项目类别:
-
资助金额:$85.0万
-
财政年份:2005
-
负责人:SHARON F. TERRY
-
依托单位:
SINGLE GENE DISORDERS RESOURCE NETWORK
-
批准号:7676035
-
项目类别:
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资助金额:$95.0万
-
财政年份:2005
-
负责人:SHARON F. TERRY
-
依托单位:
PXE 2004 Research Meeting
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批准号:6845439
-
项目类别:
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资助金额:$5.0万
-
财政年份:2004
-
负责人:SHARON F. TERRY
-
依托单位:
海外基金