These new datasets further support the effort to understand the genetic causes and links between childhood cancers and congenital disorders.
WHO: 加布里埃拉米勒儿童第一儿科研究计划 (孩子第一), 美国国立卫生研究院的一项倡议 (NIH)
什么: Kids First announces the release of three comprehensive new pediatric research datasets exploring childhood cancers and congenital disorders. 新的公开数据集包括:
儿童癌症
Gabriella Miller Kids First (GMKF) Pediatric Research Program in Susceptibility to Ewing Sarcoma Based on Germline Risk and Familial History of Cancer.
首席研究员: 约书亚D. 希夫曼, 医学博士. 亨斯迈癌症研究所, University of Utah, Salt Lake City, UT, USA.
尤文肉瘤 (EWS) is a deadly bone cancer that occurs in children and adolescents. This study examined EWS trios increasing disease risk to identify EWS predisposition genes, genome-wide GGAA microsatellite repeats, and de novo mutation and structural variant rates.
先天性疾病
The Genomic Basis of Structural Birth Defects Associated with Chromosome 18 拷贝数变化
首席研究员: Jannine Cody, University of Texas Health Science Center at San Antonio, TX, USA.
共同研究者: Jonathan Gelfond, University of Texas Health Science Center at San Antonio; Santhosh Girirajan, University of Texas Health Science Center at San Antonio, TX, USA.
The cohort evaluated includes over 700 individuals with various chromosome 18 copy number changes. Genomic sequence data from this cohort could identify hypomorphic or hypermorphic allele variants and help discover new biallelic conditions. This cohort adds known susceptibility loci to existing Kids First structural birth defects cohorts and has a single defined risk factor which can simplify the search for secondary factors for polygenetic structural birth defects.
孩子第一: Whole Genome Sequencing in Recessive Structural Brain Defects
首席研究员: 约瑟夫·G. 格里森. 加州大学, 圣地亚哥, CA, USA.
Structural Brain Defects (SBDs) result from errors in the development of the central nervous system. Many SBDs arise due to a single gene bi-allelic mutation and occur more commonly in populations with elevated consanguinity. This study identified dozens of SBD genes using WES/WGS consanguineous SBD families and proposes collaborating with the KF X01 to sequence individuals from 200 families with genetically undiagnosed SBDs.
什么时候: All three new datasets are immediately available.
在哪里: 儿童第一数据资源中心 (儿童第一刚果民主共和国) contains a quality collection of more than 188,000 数据记录, 包括这个新发布的数据. 有关上面列出的新数据集的详细信息, 使用描述标题中嵌入的链接.
为什么: The Kids First DRC Portal offers a centralized repository of harmonized genomic sequencing data from children with pediatric cancer and congenital disorders. This data is freely accessible to scientists and researchers worldwide. By connecting researchers to this resource, Kids First DRC aims to accelerate the development of new treatments that are difficult to achieve through isolated research efforts.
关于 Gabriella Miller Kids First 数据资源中心
作为 NIH 共同基金 Gabriella Miller Kids First 儿科研究计划的一部分, Kids First DRC is a collaborative pediatric research effort to understand the genetic causes and links between childhood cancer and congenital disorders. Kids First DRC doctors, 科学家们, 研究人员与患者家属合作，从生物学层面了解儿童这些疾病的根本原因，并最终支持开发改进的、有针对性的治疗方法. Learn more at kidsfirstdrc.org.
