Kids First DRC Poster at the NIH and NCATS Rare Disease Day
Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ 生活. Since Rare Disease Day was first launched by 欧洲罗迪斯 和它的 国家联盟理事会 在 2008, thousands of events have taken place throughout the world.
On February 28, 2019, in the Natcher Conference Center at the main campus of the National Institutes of Health (NIH) in Bethesda, 医学博士, the National Center for Advancing Translational Sciences (国家计算机辅助测试系统) and Clinical Center sponsored an 全天会议和博览会 提高人们对罕见疾病的认识, 他们影响的人, 与 NIH 正在进行的研究合作，以应对科学挑战并推进新疗法.
At this event, which saw roughly 500 患者倡导者, 家庭, 机构代表, 研究人员, 以及到场的临床医生, NIH 共同基金支持的 Gabriella Miller Kids First 数据资源中心 (儿童第一刚果民主共和国) presented a poster to highlight collaborative research opportunities for childhood cancer and structural birth defect researchers, 以及基因组和表型数据, and other features available within the Kids First Data Resource Portal.
“What’s wonderful about an event like this is that it serves as a reminder of the incredible wealth of talent and knowledge that exists within the rare disease community that is striving to find cures and improved treatments for individuals who experience rare and often life-threatening conditions. Rare Disease Day also reminds us that through open scientific collaboration and continued patient, foundation, and institutional support, we can accelerate research and improve lives across the country and beyond,” said Adam Resnick, PhD of Children’s Hospital of Philadelphia and Principal Investigator of the Gabriella Miller Kids First Data Resource Center.
Those attending the NIH’s Rare Disease Day had the opportunity to meet with representatives from the NIH, 博士. 雷斯尼克, and Kids First DRC Administrative and Outreach Core (奥克) Lead Jena Lilly, 多发性硬化症, CCRC, to learn more about the collaborative research opportunities and data available through the Kids First Data Resource. 与会者还可以提出问题并了解如何注册和访问数据以进行分析.
The Kids First DRC is a collaborative pediatric research effort with the goal of understanding the genetic causes and links between childhood cancer and structural birth defects. The DRC is charged with:
- Developing data-driven platforms to integrate large amounts of genomic and clinical data from different disease types
- Empowering the collaborative discovery, 订婚, and necessary partnerships across disease communities that are crucial to advance pediatric research
- Enabling rapid translation to personalized treatments for patients diagnosed with childhood cancer or structural birth defects
- Accelerating discovery of genetic causes and shared biologic pathways within and across these conditions
There are over 839TB of data files from 10 数据集, 由基因组数据组成 2,789 家庭和 7,835 Kids First 数据资源门户中的儿童癌症和结构性出生缺陷患者研究参与者. Genomic data in the Portal is aligned with Human Genome Reference HG38 and also contains comprehensive phenotypic data that is harmonized using community-based ontologies and standards such as the Human Phenotype Ontology (羟基磷灰石) 和/或 NCI 同义词库. 刚果民主共和国的表型协调工作可以更轻松地对不同数据集和疾病类型进行分析, 在数据资源中心和其他基因组数据集中.
了解有关可用数据的更多信息, 并注册使用 Kids First 数据资源门户, 访问 https://kidsfirstdrc.org/support/getting-started/.
