A Multicenter Collaborative Clinical Study to Identify Novel Causes of Severe Pediatric Growth Disorders

一项多中心合作临床研究,旨在确定严重儿科生长障碍的新病因

基本信息

  • 批准号:
    10446990
  • 负责人:
  • 金额:
    $ 66.58万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2018
  • 资助国家:
    美国
  • 起止时间:
    2018-09-05 至 2024-06-30
  • 项目状态:
    已结题

项目摘要

Normal growth is a hallmark of childhood health. Poor growth is one of the most common reasons for referral to a pediatric endocrinologist. Despite extensive evaluation, the vast majority of children with growth disorders do not receive an etiological diagnosis. A subset of these children with severe growth disorders likely have undiagnosed genetic causes of their poor growth. Without an understanding of the patient's underlying disease etiology, physicians are often at a loss as to how to counsel and treat these patients. Our work focuses on using bioinformatics searches of the electronic medical records to define clinical subgroups of growth disorders and then carefully clinically characterizing those patients in combination with genomic studies to identify novel genetic etiologies for these subgroups. We then perform follow up laboratory work as well as further physiological studies to gain a better understanding of the pathophysiological consequences of these genetic variants. Our ultimate goal is to provide targeted care for growth disorders based on the individual patient's specific pathophysiology. The current proposal focuses on three specific subgroups of patients: 1. Patients with growth hormone resistance, 2. Patients with resistance to insulin-like growth factor 1 (IGF-I), and 3. Patients with severe short stature inherited from a single parent. Patients meeting criteria for each of these subgroups are quite rare. To address this issue, we have formed the first multicenter collaborative group in the United States focused on studying growth disorders. This group consists of investigators at three of the leading pediatric networks in America: Cincinnati Children's Hospital Medical Center, Boston Children's Hospital, and The Children's Hospital of Philadelphia. Targeted bioinformatics searches of the electronic medical record systems will be performed at each of these hospitals to identify eligible patients. Patients will then be recruited for careful clinical characterization as well as acquisition of DNA samples. Whole exome sequencing and chromosomal microarrays will be performed to identify the genetic etiologies followed by translational laboratory studies to investigate the biological consequences of novel genetic variants. Pilot studies of targeted interventions based on etiologies will be performed.
正常生长是儿童健康的标志。生长不良是转诊最常见的原因之一 儿科内分泌学家尽管进行了广泛的评估,但绝大多数生长障碍儿童 不接受病因诊断。这些患有严重生长障碍的儿童中的一部分可能 未确诊的遗传原因导致他们生长不良。如果不了解病人的潜在疾病 由于病因不明,医生往往不知道如何咨询和治疗这些患者。 我们的工作重点是使用生物信息学搜索的电子病历,以确定临床 亚组的生长障碍,然后仔细临床表征这些患者结合 基因组研究,以确定这些亚组的新的遗传病因。然后我们进行后续实验室检查 工作以及进一步的生理学研究,以更好地了解病理生理学 这些基因变异的后果。我们的最终目标是为生长障碍提供有针对性的护理 根据患者的具体病理生理学。 目前的建议集中在三个特定的患者亚组:1。生长激素患者 电阻,2.胰岛素样生长因子1(IGF-I)抵抗患者,和3.严重短缩患者 从单亲遗传来的身材。符合这些亚组标准的患者非常罕见。到 为了解决这个问题,我们在美国成立了第一个多中心合作小组, 研究生长障碍该小组由三个领先的儿科网络的研究人员组成, 美国:辛辛那提儿童医院医疗中心、波士顿儿童医院和儿童医院 费城医院电子病历系统的目标生物信息学检索将 在这些医院中的每一个进行,以确定合格的病人。然后,患者将被招募, 临床表征以及DNA样本的获取。全外显子组测序和染色体 将进行微阵列以确定遗传病因,然后进行转化实验室研究, 研究新的遗传变异的生物学后果。有针对性的干预措施试点研究 将进行病因学研究。

项目成果

期刊论文数量(4)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Disorders caused by genetic defects associated with GH-dependent genes: PAPPA2 defects.
由与GH依赖性基因相关的遗传缺陷引起的疾病:PAPPA2缺陷。
Racial and Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency.
  • DOI:
    10.1016/j.jpeds.2021.04.034
  • 发表时间:
    2021-09
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Hawkes CP;Gunturi H;Dauber A;Hirschhorn JN;Grimberg A
  • 通讯作者:
    Grimberg A
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Andrew Nahum Dauber其他文献

Andrew Nahum Dauber的其他文献

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{{ truncateString('Andrew Nahum Dauber', 18)}}的其他基金

A Multicenter Collaborative Clinical Study to Identify Novel Causes of Severe Pediatric Growth Disorders
一项多中心合作临床研究,旨在确定严重儿科生长障碍的新病因
  • 批准号:
    10202676
  • 财政年份:
    2018
  • 资助金额:
    $ 66.58万
  • 项目类别:
Rare Genetic Variants as Novel Causes of Idopathic or Syndromic Short Stature
罕见遗传变异是特发性或综合征性身材矮小的新原因
  • 批准号:
    9081618
  • 财政年份:
    2015
  • 资助金额:
    $ 66.58万
  • 项目类别:
Rare Genetic Variants as Novel Causes of Idopathic or Syndromic Short Stature
罕见遗传变异是特发性或综合征性身材矮小的新原因
  • 批准号:
    8916932
  • 财政年份:
    2015
  • 资助金额:
    $ 66.58万
  • 项目类别:
Rare Genetic Variants as Novel Causes of Idiopathic or Syndromic Short Stature
罕见遗传变异是特发性或综合征性身材矮小的新原因
  • 批准号:
    8343502
  • 财政年份:
    2012
  • 资助金额:
    $ 66.58万
  • 项目类别:
Rare Genetic Variants as Novel Causes of Idiopathic or Syndromic Short Stature
罕见遗传变异是特发性或综合征性身材矮小的新原因
  • 批准号:
    8677933
  • 财政年份:
    2012
  • 资助金额:
    $ 66.58万
  • 项目类别:
Rare Genetic Variants as Novel Causes of Idiopathic or Syndromic Short Stature
罕见遗传变异是特发性或综合征性身材矮小的新原因
  • 批准号:
    8513384
  • 财政年份:
    2012
  • 资助金额:
    $ 66.58万
  • 项目类别:

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