The Discovery of Novel Genes in Inherited Sudden Arrhythmic Death Syndromes
遗传性心律失常死亡综合征中新基因的发现
基本信息
- 批准号:10439515
- 负责人:
- 金额:$ 17.62万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2018
- 资助国家:美国
- 起止时间:2018-07-01 至 2024-06-30
- 项目状态:已结题
- 来源:
- 关键词:AffectAreaArrhythmiaBasic ScienceBioinformaticsBiometryBiophysicsBrugada syndromeCardiacCardiologyCaringCatecholaminergic Polymorphic Ventricular TachycardiaCessation of lifeChildChild CareChildhoodClinicalClinical ManagementCodeComputer softwareCountyCustomDNADataDatabasesDefectDevelopmentDiagnosisDiseaseEnrollmentFamilyFamily memberFoundationsFundingFutureGene MutationGenesGeneticGenetic DeterminismGenetic Predisposition to DiseaseGenetic studyGenomicsGenotypeGoalsGrantHealthHeartHeart ArrestHeritabilityHuman GenomeIndividualInfrastructureInheritedKnowledgeLeftLifeLong QT SyndromeMaster&aposs DegreeMedical ExaminersMedical centerMedicineMentorsMolecularMutationNatureOutcomeOutcome StudyParentsPathogenicityPatient-Focused OutcomesPatientsPatternPediatric HospitalsPediatric cardiologyPhenotypePhysiciansPhysiologicalPhysiologyPositioning AttributePreventionRecording of previous eventsResearchRiskRoleSamplingSolidSudden DeathSurvivorsSyndromeTechniquesTestingTexasTrainingUncertaintybasebiobankcareercareer developmentcausal variantclinical databaseclinical prognosiscollegecomorbiditycurative treatmentsdemographicsexome sequencingexperiencegene discoverygene productgenetic analysisgenetic disorder diagnosisgenome sequencingheart functionhuman genome sequencingimprovedindividualized medicineinnovationinsightlaboratory experiencemembermetropolitannovelpediatric patientspersonalized medicineprematurepreventprobandscreeningskillssudden cardiac deathtargeted treatmenttranslational scientist
项目摘要
PROJECT SUMMARY / ABSTRACT
Dr. Christina Miyake is a pediatric electrophysiologist with clinical expertise in heritable arrhythmia disorders, a
Master’s degree in biophysics and molecular physiology, and training in basic science. She practices at Texas
Children’s Hospital, the largest pediatric hospital in the U.S., and Baylor College of Medicine a leader in human
genome research. She also collaborates with the Harris County Medical Examiner’s Office which oversees the
3rd largest county in the U.S. Her long-term goal is to be an independent translational researcher, focusing on
the genetic etiologies of pediatric sudden arrhythmic death syndromes (SADS). Pediatric inherited SADS are
caused by genetic alterations that result in life threatening arrhythmias and sudden cardiac death in otherwise
healthy children, producing devastating consequences with significant societal impact. In 30-70% of SADS
cases, the genetic alteration is unknown, suggesting that many genes are yet to be discovered. The search for
new genes causing SADS has been limited by the rare and sporadic nature of these cases and the limited
access of physicians and families to advanced sequencing techniques such as whole exome or genome
sequencing. Dr. Miyake seeks to utilize her background and expertise to identify the genetic determinants
responsible for SADS and ultimately to improve patient outcomes. Her short-term career development goals in
this proposal are: to acquire the requisite skill set to independently analyze and interpret genetic sequencing
data for novel gene discovery, to strengthen her biostatistical background, and to position herself for an
independent research career in gene discovery and gene-based outcome studies. This study is highly
innovative because novel gene-identification will be performed by an experienced clinician directly involved in
care of the affected patient (i.e. Dr. Miyake). In this proposal, Dr. Miyake aims to: 1) create and establish a
comprehensive database and biobank of pediatric SADS cases, 2) utilize advanced genomic sequencing
techniques to identify novel genes associated with SADS and 3) combine database and WES findings to define
genotype-phenotype associations in pediatric SADS. The database will be constructed from patients and
families at Texas Children’s Hospital and from sudden death cases at the Medical Examiner’s office. This
mentored grant includes coursework and hands-on lab training to develop a mastery of techniques from
accomplished experts in novel gene discovery (Dr. Dianna Milewicz), human genome sequencing (Dr. James
Lupski), statistical genetics (Dr. Suzanne Leal), clinical cardiology (Dr. Daniel Penny), and bioinformatics (Dr.
Xiaoming Liu). Ultimately, the SADS database and biobank for this project will provide the infrastructure for
future research into comprehensive SADS gene discovery. Long-term, these discoveries will help in patient
management, the prevention of sudden death, and a better understanding of cellular physiologic function within
the heart.
项目总结/摘要
博士Christina Miyake是一名儿科电生理学家,在遗传性心律失常疾病方面具有临床专业知识,
生物物理学和分子生理学硕士学位,以及基础科学培训。她在德克萨斯州执业
美国最大的儿科医院儿童医院,贝勒医学院是人类研究的领导者
基因组研究她还与哈里斯县医学检查办公室合作,监督
她的长期目标是成为一名独立的翻译研究员,专注于
儿童猝死综合征(SADS)的遗传病因。儿童遗传性SADS是
由基因改变引起,导致危及生命的心律失常和心脏性猝死,
健康的儿童,产生具有重大社会影响的破坏性后果。在30-70%的SADS中,
例,基因改变是未知的,这表明许多基因尚未被发现。寻找
导致SADS的新基因受到这些病例的罕见和散发性质以及有限的
医生和家庭获得先进的测序技术,如全外显子组或基因组
测序三宅博士试图利用她的背景和专业知识,以确定遗传决定因素
负责SADS,并最终改善患者的预后。她的短期职业发展目标是
这些建议是:获得独立分析和解释基因测序的必要技能
新基因发现的数据,以加强她的生物统计学背景,并定位自己为一个
在基因发现和基于基因的结果研究方面的独立研究生涯。这项研究高度
创新,因为新的基因鉴定将由经验丰富的临床医生直接参与,
受影响患者的护理(即三宅博士)。三宅博士的目标是:1)创建和建立一个
儿童SADS病例的综合数据库和生物库,2)利用先进的基因组测序
技术,以确定新的基因与SADS和3)联合收割机数据库和WES的发现,以确定
儿童SADS的基因型-表型相关性。该数据库将从患者和
家庭在得克萨斯州儿童医院和猝死案件在法医办公室。这
指导补助金包括课程作业和动手实验室培训,以掌握
在新基因发现(Dianna Milewicz博士)、人类基因组测序(James博士)
Lupski),统计遗传学(Suzanne Leal博士),临床心脏病学(丹尼尔彭尼博士)和生物信息学(Dr.
Xiaoming Liu).最终,该项目的SADS数据库和生物库将为以下方面提供基础设施:
未来的研究,以全面的SADS基因发现。从长远来看,这些发现将有助于患者
管理,预防猝死,更好地了解细胞内的生理功能,
心脏
项目成果
期刊论文数量(10)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.
TANGO2 相关代谢性脑病和心律失常的生活质量、疾病认知和父母生活经历。
- DOI:10.1038/s41431-022-01127-5
- 发表时间:2022
- 期刊:
- 影响因子:0
- 作者:Murali,ChayaN;Lalani,SeemaR;Azamian,MahshidS;Miyake,ChristinaY;Smith,HadleyStevens
- 通讯作者:Smith,HadleyStevens
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
- DOI:10.1016/j.hrthm.2022.05.009
- 发表时间:2022-10
- 期刊:
- 影响因子:5.5
- 作者:Miyake, Christina Y.;Lay, Erica J.;Beach, Cheyenne M.;Ceresnak, Scott R.;Delauz, Caridad M.;Howard, Taylor S.;Janson, Christopher M.;Jardine, Kate;Kannankeril, Prince J.;Kava, Maina;Kim, Jeffrey J.;Liberman, Leonardo;Macicek, Scott L.;Pham, Tam Dam;Robertson, Terry;Valdes, Santiago O.;Webster, Gregory;Stephens, Sara B.;Milewicz, Diana M.;Azamian, Mahshid;Ehsan, Saad A.;Houck, Kimberly M.;Soler-Alfonso, Claudia;Glinton, Kevin E.;Tosur, Mustafa;Li, Na;Xu, Weiyi;Lalani, Seema R.;Zhang, Lilei
- 通讯作者:Zhang, Lilei
Atrioventricular Nodal Ablation Is Not an Effective Treatment Strategy in Catecholaminergic Polymorphic Ventricular Tachycardia.
房室结消融并不是儿茶酚胺能多形性室性心动过速的有效治疗策略。
- DOI:10.14503/thij-22-7974
- 发表时间:2023
- 期刊:
- 影响因子:0.9
- 作者:Asaki,SYukiko;Kessler,David;Nayak,Aarushi;Kim,JeffreyJ;Miyake,ChristinaY
- 通讯作者:Miyake,ChristinaY
Atrial Standstill in the Pediatric Population: A Multi-Institution Collaboration.
儿科人群的心房停搏:多机构合作。
- DOI:10.1016/j.jacep.2022.08.022
- 发表时间:2023
- 期刊:
- 影响因子:0
- 作者:Howard,TaylorS;Chiang,DavidY;Ceresnak,ScottR;Ladouceur,VirginieBeausejour;Whitehill,RobertD;Czosek,RichardJ;Knilans,TimothyK;Ahnfeldt,AgnetheM;Borresen,MaleneLando;Jaeggi,Edgar;Udupa,Sharmila;Gow,Robert;Moore,JeremyP;Ga
- 通讯作者:Ga
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
- DOI:10.1002/ajmg.a.62967
- 发表时间:2022-11
- 期刊:
- 影响因子:2
- 作者:Kumar, Runjun D.;Meng, Linyan;Liu, Pengfei;Miyake, Christina Y.;Worley, Kim C.;Bi, Weimin;Lalani, Seema R.
- 通讯作者:Lalani, Seema R.
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Christina Yumi Miyake其他文献
Christina Yumi Miyake的其他文献
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{{ truncateString('Christina Yumi Miyake', 18)}}的其他基金
The Discovery of Novel Genes in Inherited Sudden Arrhythmic Death Syndromes
遗传性心律失常死亡综合征中新基因的发现
- 批准号:
9978099 - 财政年份:2018
- 资助金额:
$ 17.62万 - 项目类别:
The Discovery of Novel Genes in Inherited Sudden Arrhythmic Death Syndromes
遗传性心律失常死亡综合征中新基因的发现
- 批准号:
10207744 - 财政年份:2018
- 资助金额:
$ 17.62万 - 项目类别:
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