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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：
9978099
负责人：
Christina Yumi Miyake
金额：
$ 17.94万
依托单位：
BAYLOR COLLEGE OF MEDICINE
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 2023-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9978099
关键词：
Affect Area Arrhythmia Basic Science Bioinformatics Biometry Biophysics Brugada syndrome Cardiac Cardiology Caring Catecholaminergic Polymorphic Ventricular Tachycardia Cessation of life Child Child Care Childhood Clinical Clinical Management Code Computer software County Custom DNA Data Databases Defect Development Diagnosis Disease Enrollment Family Family member Foundations Funding Future Gene Mutation Genes Genetic Genetic Determinism Genetic Predisposition to Disease Genetic study Genomics Genotype Goals Grant Health Heart Heart Arrest Heritability Human Genome Individual Infrastructure Inherited Knowledge Left Life Long QT Syndrome Master&apos s Degree Medical Examiners Medical center Medicine Mentors Molecular Mutation Nature Outcome Outcome Study Parents Pathogenicity Patient-Focused Outcomes Patients Pattern Pediatric Hospitals Pediatric cardiology Phenotype Physicians Physiological Physiology Positioning Attribute Prevention Recording of previous events Research Risk Role Sampling Solid Sudden Death Survivors Syndrome Techniques Testing Texas Training Uncertainty base biobank career career development causal variant clinical database college comorbidity curative treatments demographics exome sequencing experience gene discovery gene product genetic analysis genetic disorder diagnosis genome sequencing heart function human genome sequencing improved individualized medicine innovation insight laboratory experience member metropolitan novel outcome forecast pediatric patients personalized medicine premature prevent proband screening skills sudden cardiac death targeted treatment translational 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.

项目摘要/摘要