Novel gene discovery in disorders of the liver and biliary tree

肝脏和胆管系统疾病的新基因发现

基本信息

  • 批准号:
    10370717
  • 负责人:
  • 金额:
    $ 16.53万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2022
  • 资助国家:
    美国
  • 起止时间:
    2022-01-19 至 2026-11-30
  • 项目状态:
    未结题

项目摘要

This career development award details a 5-year training plan to facilitate transition to an independent career as a hepatogeneticist focused on gene discovery and characterization for hepatobiliary disease. I completed my Pediatrics residency at St. Christopher’s Hospital for Children and my fellowship in Human Genetics at The Children’s Hospital of Philadelphia (CHOP). I am currently an attending physician and research fellow at CHOP in the Division Of Human Genetics. My clinical and research efforts focus on children with hepatobiliary disease. My goals for this proposal are to become more experienced with exome and genetic variant interpretation and to gain experience using zebrafish as a model to study hepatobiliary disease. I will also use this opportunity to develop my ability to design experiments, write successful grant applications, and lead a laboratory, to facilitate a smooth transition to academic faculty. My mentor for this proposal is Dr. Hakon Hakonarson, a Professor of Pediatrics and director of the Center for Applied Genomics (CAG) at CHOP. Dr. Hakonarson has mentored dozens of post-doctoral research fellows and K-awardees, and was the recipient of CHOP’s Research Mentor Award. I will be co-mentored by Dr. Michael Pack, a Professor of Medicine at the University of Pennsylvania (UPenn). Dr. Pack also has an extensive history of mentoring trainees and K-awardees and works closely with Dr. Hakonarson on novel gene characterization. I have also assembled a scientific advisory committee, consisting of Drs. Klaus Kaestner, Ben Stanger, Kirk Wangensteen, Tom Jongens, and Elizabeth Rand, all experts in the fields of hepatology, neurogenetics or genetics with extensive mentoring experience. I will also have the benefit of the outstanding resources at both CHOP and UPenn, which have facilitated career development for countless past trainees. My proposed research focusses on the discovery and characterization of novel genes implicated in hepatobiliary disease. We are assembling a cohort of individuals with unexplained hepatobiliary disease, and will apply a research pipeline to facilitate identification of novel genes. Our laboratory has already identified de novo nonsense and frameshift variants in MED12 as causal for Hardikar Syndrome, a syndromic form of biliary dysgenesis, of previously unknown genetic basis. Aim 1 of this proposal delineates how a patient cohort will be assembled and characterized, and Aim 2 details the characterization of the role of MED12 in biliary development. Completion of the proposed studies will improve our ability to genetically diagnose hepatobiliary disease, better characterize the genetic landscape of these poorly-understood conditions, and elucidate the mechanism by which nonsense and frameshift MED12 variants cause biliary disease. This proposal will also provide me with experience studying hepatobiliary disease in animal and cellular models, writing grants and scientific papers, and allow me to observe how academic laboratories are run. Furthermore, this patient cohort and the cellular and animal models developed as part of this proposal will be invaluable in my future career.
这个职业发展奖详细介绍了一个5年的培训计划,以促进过渡到一个独立的职业生涯, 一位肝脏遗传学家,专注于肝胆疾病的基因发现和表征。我完成了我 在圣克里斯托弗儿童医院的儿科住院医师和我在人类遗传学的奖学金 费城儿童医院(CHOP)我目前是CHOP的主治医师和研究员 在人类遗传学部门我的临床和研究工作主要集中在儿童肝胆疾病。 我提出这个建议的目的是在外显子组和遗传变异解释方面变得更有经验, 以斑马鱼为模型研究肝胆疾病,获得经验。我也会利用这个机会, 发展我设计实验的能力,撰写成功的资助申请,并领导实验室,以促进 顺利过渡到学术教师。 我的这一建议的导师是Hakon Hakonarson博士,他是儿科教授,也是儿科中心的主任。 应用基因组学(CAG)在CHOP。Hakonarson博士指导了数十名博士后研究员, K-awardees,并获得CHOP的研究导师奖。我将由迈克尔博士共同指导 帕克说,他是宾夕法尼亚大学(UPenn)的医学教授。帕克博士也有着广泛的历史 指导学员和K-获奖者,并与Hakonarson博士在新基因表征方面密切合作。我 我还组建了一个科学咨询委员会,由克劳斯·凯斯特纳博士、本·斯坦格博士、柯克博士组成。 Wangensteen、Tom Jongens和Elizabeth兰德,他们都是肝病学、神经遗传学或 遗传学与丰富的指导经验。我还将受益于两个方面的优秀资源, CHOP和UPenn,为无数过去的学员提供了职业发展便利。 我建议的研究重点是发现和表征与肝胆疾病有关的新基因。 疾病我们正在收集一组不明原因肝胆疾病患者,并将应用 研究管道,以促进新基因的鉴定。我们的实验室已经重新鉴定出 MED 12中的无意义和移码变体是哈迪卡综合征(一种胆汁综合征)的病因 遗传学,以前未知的遗传基础。本提案的目标1描述了患者队列将如何 目的2详细描述了MED 12在胆道发育中作用的表征。 完成拟议的研究将提高我们对肝胆疾病的遗传诊断能力, 描述这些不太了解的条件的遗传景观,并阐明其机制, 无义和移码MED 12变体导致胆道疾病。该提案还将为我提供 在动物和细胞模型中研究肝胆疾病的经验,撰写赠款和科学论文, 让我来看看学术实验室是如何运作的。此外,该患者队列和细胞 作为这个提议的一部分而开发的动物模型将在我未来的职业生涯中发挥不可估量的作用。

项目成果

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Alanna Strong其他文献

Alanna Strong的其他文献

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{{ truncateString('Alanna Strong', 18)}}的其他基金

Novel gene discovery in disorders of the liver and biliary tree
肝脏和胆管系统疾病的新基因发现
  • 批准号:
    10552553
  • 财政年份:
    2022
  • 资助金额:
    $ 16.53万
  • 项目类别:

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