Molecular Genetics Core

分子遗传学核心

• 批准号: 9229201
• 负责人: LOUIS M KUNKEL
• 金额: $ 11.38万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-09-23 至 2021-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9229201
• 关键词: Area; Boston; Collaborations; Complex; Country; DNA; DNA Sequencing Facility; Data; Development; Dideoxy Chain Termination DNA Sequencing; Family; Genetic; Genome; Genomic approach; Genomics; Grant; Housing; Individual; Intellectual functioning disability; Laboratories; Location; Mental Retardation and Developmental Disabilities Research Centers; Methods; Molecular; Molecular Genetics; N.I.H. Research Support; Output; Outsourcing; Pediatric Hospitals; Price; RNA; Research; Research Personnel; Services; Techniques; Technology; Therapeutic Intervention; Time; Training; Vendor; abstracting; accurate diagnosis; base; cost effective; cost effectiveness; design; disability; exome; exome sequencing; gene discovery; genome sequencing; implantation; individual patient; instrumentation; interest; knowledge base; member; neurodevelopment; next generation sequencing; targeted treatment; transcriptome; user-friendly

MOLECULAR GENETICS CORE (CORE F) ABSTRACT The fields of molecular genetic and genomic technology, instrumentation and data handling/analysis have undergone revolutionary changes in the previous 5 years of the IDDRC grant to Boston Children's Hospital. Many of these changes, including a dramatic reduction in price, has made exome or genome sequencing within reach of individual laboratory investigators and clinicians. It is now possible to obtain exome/genome sequences on families or individuals with intellectual and developmental disabilities and determine the underlying genetic cause of the problem-- leading to more accurate diagnoses and targets for therapeutic intervention. The technology and interpretation of the output data is very complicated, and is often beyond the expertise of individual laboratories or clinicians. The Boston Children's Hospital's IDDRC Molecular Genetics Core laboratory has evolved with these revolutionary changes and represents a central location to which IDDRC investigators can obtain advice on project design and outsourcing to the best and least expensive vendors. Additionally, IDDRC investigators can receive training and assistance in analyzing the resulting data, such that they will have a smooth path to new gene discovery. This benefits both their NIH supported research as well as individual patients and their families. Some investigator needs have not changed over the past 5 years. There is still the need for confirmatory sequence verification, as well as advice on functional studies. The demand for our economical array-based transcriptome studies and PCR analysis continues to grow. Sometimes laboratories or cores can collaborate on projects, saving time and money for all parties, but need assistance on how to find a suitable partner. The Molecular Genomics Core facilitates all of the above and more; all of these functions are combined in one central laboratory available easily to all IDDRC investigators and their lab members. This produces an economy of scale and a place for training and collaboration. The Molecular Genetics Core Laboratory will emphasize the following specific aims: Aim 1: Provision of general design, implantation, and interpretation of IDDRC studies. Aim 2: Obtaining the best available price, quality, and turnaround time for Next Generation Sequencing (NGS) for the study of IDD/Neurodevelopment. Aim 3: Producing high quality Array and other Services on demand. Aim 4: Training and intellectual development for our researchers and clinicians. Aim 5: Assisting in collaborations within and outside the Boston Children's Hospital IDDRC.

分子遗传学核心（核心F） 摘要 分子遗传学和基因组技术、仪器和数据处理/分析的领域已经 在向波士顿儿童医院提供IDDRC赠款的前5年中，发生了革命性的变化。 其中许多变化，包括价格的大幅降低，使得外显子组或基因组测序 在实验室研究者和临床医生的范围内。现在可以获得外显子组/基因组 对智力和发育残疾的家庭或个人的序列，并确定 问题的潜在遗传原因-导致更准确的诊断和治疗目标 干预 输出数据的技术和解释非常复杂，往往超出了专家的专业知识范围。 个体实验室或临床医生。波士顿儿童医院IDDRC分子遗传学核心 实验室随着这些革命性的变化而发展，是IDDRC的中心位置， 调查人员可以就项目设计和外包给最好和最便宜的供应商获得咨询意见。 此外，IDDRC调查人员可以在分析结果数据方面接受培训和帮助， 他们将有一条顺利的新基因发现之路。这也有利于他们的NIH支持的研究 作为个体患者和他们的家人。 一些研究者的需求在过去5年中没有变化。仍然需要确认 序列验证以及功能研究建议。我们的经济型阵列式 转录组研究和PCR分析继续增长。有时实验室或核心可以合作 在项目上，为各方节省时间和金钱，但在如何找到合适的合作伙伴方面需要帮助。的 分子基因组学核心促进了所有上述和更多;所有这些功能都结合在一个 所有IDDRC研究人员及其实验室成员都可以方便地使用中心实验室。这产生 规模经济和培训与合作的场所。分子遗传学核心实验室将 强调以下具体目标： 目的1：提供IDDRC研究的一般设计、植入和解释。 目标2：为下一代产品提供最佳的价格、质量和周转时间 测序（NGS）用于IDD/神经发育研究。 目标3：按需提供高质量的阵列和其他服务。 目标4：为我们的研究人员和临床医生提供培训和智力发展。 目标5：协助波士顿儿童医院IDDRC内外的合作。