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Identifying and applying genetic variation relevant to clinical outcomes for individuals with congenital heart disease

识别和应用与先天性心脏病患者临床结果相关的遗传变异

基本信息

批准号：
10226278
负责人：
Wendy K Chung
金额：
$ 45.49万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-08-01 至 2025-07-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10226278
关键词：
Affect Age Anatomy Aneuploidy Arrhythmia Brain Candidate Disease Gene Cardiac Cardiac Death Cardiovascular system Caring Child Care Clinical Clinical Research Clinical Treatment Clinical Trials Clinical Trials Design Cognitive Collaborations DNA Data Databases Development Diagnostic Disease Outcome Down Syndrome Enrollment Etiology Exercise Family Funding Gap Junctions Genes Genetic Genetic Diseases Genetic Variation Genotype Goals Growth Heart failure Height High Prevalence Individual Inherited Intervention Laboratories Medical Medical Records Modeling Molecular Genetics Morbidity - disease rate Motion Neurodevelopmental Disorder Operative Surgical Procedures Other Genetics Outcome Pathogenicity Patients Pediatric Cardiac Genomics Consortium Phenotype Problem behavior Randomized Clinical Trials Reporting Risk Risk Estimate Role Site Socioeconomic Status Standardization Statistical Methods Survivors Syndrome System Testing Therapeutic Training Translating Transplantation Update Variant Ventricular Function base biobank blind case finding clinical care cohort congenital heart disorder design digital disease diagnosis exome sequencing genetic approach genetic association genetic variant genome sequencing genomic data improved improved outcome indexing individual patient insight instrument medical complication mortality neurodevelopment novel novel therapeutic intervention novel therapeutics outcome prediction pleiotropism polygenic risk score population based premature prevent proband programs prospective treatment trial

项目摘要

Project Summary Improvements in the surgical and medical care of children with congenital heart disease (CHD) have increased survival. Among survivors, however, there is a high prevalence and significant long term impact of cognitive and behavioral problems and medical complications including heart failure and problems with growth. We hypothesize that in some cases of CHD, there are genes that have pleiotropic effects on development and function of other systems including the brain. The goal of this study is to determine the genetic contributions to clinical outcomes in individuals with CHD and to begin to use this information in clinical care and to design better clinical trials of treatments for CHD. Through these studies, we will determine major genetic contributors to CHD outcomes, expand the scientific evidence through additional case finding outside of PCGC to increase the number of confirmed CHD genes and clinically characterize these genetic conditions to improve the ability to anticipate and prevent medical problems in those CHD patients. By identifying individuals with pathogenic variants from previous clinical trials, we will determine whether integration of genomic data would improve power and precision for CHD treatment trials by eliminating groups of patients unlikely to respond. All of these efforts are focused on translating the findings from PCGC into clinical care.

项目总结