NIH奖励 220万美元用于开发儿童罕见遗传病数据库

  近日，NIH奖励辛辛那提儿童医学中心（CCHMC）220万美元用于开发及维护儿童罕见遗传病的遗传信息数据库。科学家们将会利用纵向的儿科数据资源来研究开发新型技术及疗法，同时来追踪一系列罕见遗传病儿童的健康预后结果。

  利用儿童医学中心的计算、数据处理及软件开发能力，CCHMC的生物信息学专家们将会开发出LPDR数据库，该数据库将包括基于web接口的数据查询和探索界面，而且可以被全球的临床医生和研究人员进行使用。

  CCHMC的研究者表示，这种新型工具可以帮助研究者对比、定量并且在来自病人的特殊临床数据及分子、遗传和基因组信息之间建立一定的模式，来阐明疾病的状况并且为临床医生提供疗法的选择和决策；研究者将会利用组合性筛选及数据的追踪来应对挑战，诸如早期疾病鉴别新方法的开发及评估，以及新生儿疾病筛查的识别等；另外研究者将可以确定是否采用的疗法是有效的以及评估所筛选的疾病的长期前景。

  在LPDR数据库中的疾病包括溶小体贮积疾病（Lysosomal Storage Disorders）、先天性代谢缺陷（inborn errors of metabolism）及严重的组合性免疫缺陷障碍等，研究者表示，我们还可以向数据库中添加额外的疾病以及来自于DNA测序检测的基因组数据等；目前这项计划由研究者Peter White所领导，其是医学中心的生物医学信息学部门主任，他和他的同事将会同NIH进行密切合作来发起新生儿基因组医学的测序工作及公共健康项目的开展。

  目前对于CCHMC的资助部分来自新生儿筛查转化研究网络，该研究网络又是由尤尼斯肯尼迪施莱佛国立儿童健康研究所及人类发展研究所资助的。（转化医学网360zhyx.com）

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The National Institutes of Health has awarded the Cincinnati Children's Hospital Medical Center $2.2 million to develop and maintain a national database of genetic information from children with rare genetic disorders.

The Longitudinal Pediatric Data Resource will be used by scientists to research new technologies and treatments, as well as to track the health outcomes of children who screen positive for a number of rare genetic disorders. Using the medical center's computing, data processing, and software development capabilities, bioinformatics experts at CCHMC will develop the LPDR database, which will include a web-based interface for data querying and exploration that will be made available to physicians and researchers nationwide.

CCHMC said the tool will allow researchers to compare, quantify, and establish patterns between specific clinical data from patients and molecular, genetic, and genomic information in order to elucidate their illnesses and better inform treatment decisions. Researchers will be able to apply the combined screening and follow-up data to tackle challenges such as the development and evaluation of new methods for early disease identification and the identification of new candidate diseases for newborn screening. Additionally, they will be able to determine whether treatments are effective and assess the long-term outlook for screened disorders.

Among the diseases to be included in the LPDR database are lysosomal storage disorders, inborn errors of metabolism, and severe combined immunodeficiency disorders, CCHMC said, adding it plans to include additional diseases and genomic data derived from DNA sequence-based tests. The project is led by Peter White, director of the division of biomedical informatics at the medical center. He and his colleagues will work closely with the NIH-sponsored Newborn Sequencing in Genomic Medicine and Public Health program.

The funds are part of the Newborn Screening Translational Research Network, which is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development. The effort is headed by theAmericanCollegeof Medical Genetics and Genomics.