Rapid Carrier and Newborn Diagnostic Testing for MSUD

MSUD 快速携带者和新生儿诊断测试

基本信息

  • 批准号:
    6443748
  • 负责人:
  • 金额:
    $ 10万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2001
  • 资助国家:
    美国
  • 起止时间:
    2001-09-25 至 2003-09-30
  • 项目状态:
    已结题

项目摘要

Maple Syrup Urine Disease (MSUD) is a recessive genetic disorder resulting from defects in the branched chain a-keto acid dehydrogenase complex (BCKAD). Infants with classic MSUD appear normal at birth, but can die within 2-3 weeks if untreated. Although generally rare (1:200,000 births), the incidence of MSUD in certain Mennonite communities is quite high (1:176 live births), and results from a specific defect (Y393N) in the BCKAD E1a subunit gene. Although early detection and treatment are critical to favorable prognosis for MSUD patients, there is no commercial or state DNA testing available. Newborn screening by serum amino acid analyses occurs in only 23 states, and requires that testing be delayed until branched chain amino acids accumulate, increasing an infant's risk of neurological damage. At the request of two Mennonite communities we developed a DNA-based test for carrier and newborn screening. Unfortunately, it is not feasible for an academic research laboratory to maintain this test, nor is the current test optimal for commercial use. We propose a collaborative effort with Paternity Testing Corporation to apply two novel approaches, denaturing high-performance liquid chromatography and molecular beacons, to developing an improved rapid, sensitive and commercially applicable test for the Y393N E1a gene defect. PROPOSED COMMERCIAL APPLICATIONS: A commercially available genetic test for MSUD would play a vital role in improving prognosis and outcomes for families affected by this orphan disease, especially in the Mennonite community. While not a highly profitable venture in itself, such a test fulfills an important need to the community, and will pave the way for developing analogous tests for other neglected orphan diseases.
枫树尿病(MSUD)是一种隐性遗传性疾病,由支链α-酮酸脱氢酶复合物(BCKAD)缺陷引起。患有典型MSUD的婴儿在出生时表现正常,但如果不治疗,可能会在2-3周内死亡。虽然一般罕见(1:200,000出生),MSUD的发病率在某些门诺派社区是相当高的(1:176活产),并导致在BCKAD E1 a亚基基因的特定缺陷(Y393 N)。虽然早期检测和治疗对MSUD患者的良好预后至关重要,但目前还没有商业或国家DNA检测。通过血清氨基酸分析进行的新生儿筛查仅在23个州进行,并且要求测试延迟到支链氨基酸积累,增加婴儿神经损伤的风险。应两个门诺派社区的要求,我们开发了一种基于DNA的检测方法,用于携带者和新生儿筛查。不幸的是,学术研究实验室维持这种测试是不可行的,目前的测试也不是商业用途的最佳选择。我们建议与亲子鉴定公司合作,应用两种新的方法,变性高效液相色谱和分子信标,开发一种改进的快速,灵敏和商业适用的测试Y393 N E1 a基因缺陷。拟议的商业应用:MSUD的商业化基因检测将在改善受这种孤儿疾病影响的家庭的预后和结局方面发挥至关重要的作用,特别是在门诺派社区。虽然这种测试本身不是一个高利润的风险,但它满足了社区的重要需求,并将为开发其他被忽视的孤儿疾病的类似测试铺平道路。

项目成果

期刊论文数量(1)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)

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CHARLOTTE L PHILLIPS其他文献

CHARLOTTE L PHILLIPS的其他文献

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{{ truncateString('CHARLOTTE L PHILLIPS', 18)}}的其他基金

Preclinical testing of early life anti-myostatin therapy for osteogenesis imperfecta
早期抗肌生长抑制素治疗成骨不全症的临床前测试
  • 批准号:
    10840238
  • 财政年份:
    2023
  • 资助金额:
    $ 10万
  • 项目类别:
Maternal Anti-myostatin (GDF8) Therapy to Enhance Offspring Musculoskeletal Health in Mouse Models of Osteogenesis Imperfecta
母体抗肌生长抑制素 (GDF8) 疗法可增强成骨不全小鼠模型后代的肌肉骨骼健康
  • 批准号:
    10041912
  • 财政年份:
    2020
  • 资助金额:
    $ 10万
  • 项目类别:
Maternal Anti-myostatin (GDF8) Therapy to Enhance Offspring Musculoskeletal Health in Mouse Models of Osteogenesis Imperfecta
母体抗肌生长抑制素 (GDF8) 疗法可增强成骨不全小鼠模型后代的肌肉骨骼健康
  • 批准号:
    10216181
  • 财政年份:
    2020
  • 资助金额:
    $ 10万
  • 项目类别:
Mechanotransduction Approach to Improve Bone Quality in Osteogenesis Imperfecta
改善成骨不全患者骨质量的力传导方法
  • 批准号:
    7886189
  • 财政年份:
    2010
  • 资助金额:
    $ 10万
  • 项目类别:
Mechanotransduction Approach to Improve Bone Quality in Osteogenesis Imperfecta
改善成骨不全患者骨质量的力传导方法
  • 批准号:
    8277100
  • 财政年份:
    2010
  • 资助金额:
    $ 10万
  • 项目类别:
Mechanotransduction Approach to Improve Bone Quality in Osteogenesis Imperfecta
改善成骨不全患者骨质量的力传导方法
  • 批准号:
    8076265
  • 财政年份:
    2010
  • 资助金额:
    $ 10万
  • 项目类别:
Collagen Glomerulopathy: COL1A2 Deficient Mouse Model
胶原蛋白肾小球病:COL1A2 缺陷小鼠模型
  • 批准号:
    7038724
  • 财政年份:
    2006
  • 资助金额:
    $ 10万
  • 项目类别:
Collagen Glomerulopathy: COL1A2 Deficient Mouse Model
胶原蛋白肾小球病:COL1A2 缺陷小鼠模型
  • 批准号:
    7229786
  • 财政年份:
    2006
  • 资助金额:
    $ 10万
  • 项目类别:
Biomolecular Mechanics of Collagen Monomers And Fibrils
胶原单体和原纤维的生物分子力学
  • 批准号:
    6711818
  • 财政年份:
    2002
  • 资助金额:
    $ 10万
  • 项目类别:
Biomolecular Mechanics of Collagen Monomers And Fibrils
胶原单体和原纤维的生物分子力学
  • 批准号:
    6620506
  • 财政年份:
    2002
  • 资助金额:
    $ 10万
  • 项目类别:

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