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ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth

ClinGen 严重结构异常和死产专家管理小组

基本信息

批准号：
10687993
负责人：
RONALD WAPNER
金额：
$ 34.87万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-09-01 至 2024-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10687993
关键词：
Amniocentesis Area Caring Childhood ClinVar Clinical Clinical Management Complex Congenital Abnormality Consensus Counseling Data Developmental Biology Diagnosis Diagnostic Discipline of obstetrics Disease Edema Etiology Evaluation Fetal Diseases Genes Genetic Genetic Counseling Genomics Genotype Gestational Age Guidelines Hydrops Fetalis Image Individual Infant Infrastructure Institution International Karyotype Laboratories Literature Maternal-fetal medicine Medical Genetics Medicine Molecular Morbidity - disease rate National Institute of Child Health and Human Development Pathogenicity Perinatal Phenotype Policies Pregnancy Pregnancy Outcome Procedures Prognosis Provider Public Domains Recurrence Risk Standardization Structural defect Structure Testing Therapeutic Intervention Ultrasonography Utilization Review Validation Variant Visualization anatomic imaging causal variant clinical care clinical diagnosis clinical imaging clinical practice clinically relevant computer science congenital anomaly developmental disease exome experience fetal genetic variant genome sequencing genomic data improved in utero interest knowledge base member mortality obstetric care prenatal public database reproductive outcome response stillbirth tool

项目摘要

Congenital anomalies occur in approximately 3% of all pregnancies and are a leading cause of perinatal, infant, and childhood mortality and morbidity. The majority of these anomalies are identified during pregnancy but despite the introduction of increasingly more sophisticated prenatal genomic testing such as sequencing, a specific diagnosis is hampered by our inability to accurately interpret genomic data. A leading barrier to interpretation is the lack of expert consensus regarding gene-disease association, variant pathogenicity, and actionability of findings, creating challenges for obstetric and genetic providers to offer appropriate care. Accordingly, in response to the Eunice Kennedy Shriver National institute of Child Health and Human Development's interest in the genomics of birth defects, this application is a proposal to become a participating ClinGen expert panel to evaluate the clinical relevance of genes and variants related to fetal congenital anomalies. Our proposal will develop gene disease validity and variant curation expert panels to evaluate two common and unique severe fetal disorders: non-immune fetal hydrops and unexplained stillbirth. The variant and gene curation panels are composed of experts in clinical genetics, maternal fetal medicine, molecular laboratory testing, computer science, developmental biology, genetic counseling and biocuration. Members of our expert panel come from diverse national and international institutions and have extensive experience in prenatal phenotyping and genotyping. The panel also has members who have served on other ClinGen expert panels and committees, which will facilitate our integration into the ClinGen infrastructure. Our proposal describes the details of our intended use of ClinGen policies, procedures, and tools to best determine the clinical relevance of specific genes and variants to clinical care. We are committed to sharing our data and results with others and contributing to the genetic knowledge base in the area of early developmental disease.

先天性异常发生在所有怀孕的大约3%，是围产期，婴儿，以及儿童死亡率和发病率。大多数这些异常是在怀孕期间发现的，尽管引入了越来越复杂的产前基因组检测，如测序，由于我们不能准确地解释基因组数据，特异性诊断受到阻碍。一个主要的障碍，解释是缺乏专家共识的基因疾病的关联，变异致病性，调查结果的可诉性，对产科和遗传服务提供者提供适当护理造成挑战。因此，在回应尤尼斯肯尼迪施莱佛国家儿童健康和人类研究所，发展的兴趣，在基因组学的出生缺陷，这一申请是一项建议，成为一个参与 ClinGen专家小组评估胎儿先天性心脏病相关基因和变异的临床相关性异常我们的建议将建立基因疾病有效性和变异治疗专家小组，以评估两个常见和独特的严重胎儿疾病：非免疫性胎儿水肿和原因不明的死产。变异和基因治疗小组由临床遗传学、母胎医学、分子实验室测试、计算机科学、发育生物学、遗传咨询和生物治疗。我们的专家小组成员来自不同的国家和国际机构，在产前表型和基因分型方面的经验。该小组还有曾在其他机构任职的成员 ClinGen专家小组和委员会，这将促进我们融入ClinGen基础设施。我们的提案描述了我们预期使用ClinGen政策、程序和工具的详细信息，确定特定基因和变体与临床护理的临床相关性。我们致力于分享我们数据和结果，并为早期发育领域的遗传知识库做出贡献。疾病