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
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
-
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:
-
资助金额:$3.8万
-
财政年份:2010
-
负责人:SHARON F. TERRY
-
依托单位:
Conference Support for Genetic Alliance
-
批准号:8034983
-
项目类别:
-
资助金额:$9.4万
-
财政年份:2009
-
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
-
依托单位:
SINGLE GENE DISORDERS RESOURCE NETWORK
-
批准号:7415797
-
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:7402937
-
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: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:
-
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
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项目类别:
-
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