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The Genetics of Hand Osteoarthritis Study (GHOST)

手部骨关节炎的遗传学研究 (GHOST)

基本信息

批准号：
8448768
负责人：
Mariko Lisa Ishimori
金额：
$ 14.62万
依托单位：
CEDARS-SINAI MEDICAL CENTER
依托单位国家：
美国
项目类别：
财政年份：
2009
资助国家：
美国
起止时间：
2009-06-01 至 2014-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8448768
关键词：
Acquired Immunodeficiency Syndrome Affect Age Age-Years Anatomy Biometry Candidate Disease Gene Characteristics Chronic Clinical Clinical Research Commit Data Degenerative polyarthritis Development Disease Distal Doctor of Medicine Doctor of Philosophy Epidemiologic Studies First Degree Relative Frequencies Funding Future Genetic Genetic Determinism Goals Hand Heart Diseases Heberden&apos s Node Heritability High Prevalence Instruction International Intervention Investigation Joints Lead Light Location Malignant Neoplasms Medical Genetics Mentored Patient-Oriented Research Career Development Award Mentors Metacarpal bone Methods Modification Molecular Molecular Genetics Morbidity - disease rate Nodal Outcome Study Pain Pathogenesis Patients Phenotype Population Postdoctoral Fellow Prevention Principal Investigator Public Health Quality of life Recruitment Activity Registries Relative (related person)Research Research Design Research Methodology Research Personnel Research Subjects Rheumatism Rheumatology Role Siblings Societies Spouses Study Subject Symptoms Synovitis Systemic Lupus Erythematosus Therapeutic Therapeutic Intervention Training United States National Institutes of Health arthropathies articular cartilage base bone career career development clinical phenotype cohort design disability disease characteristic disease phenotype effective therapy experience genetic association genetic epidemiology genetic risk factor genome wide association study genome-wide insight interest proband skeletal dysplasia skills success

项目摘要

Dr. Mariko Ishimori is strongly committed to pursuing an academic career in clinical research. She possesses a strong clinical background in rheumatology and an emerging expertise in clinical research. She now seeks to enhance her skills in the design and implementation of future studies and gain the training, experience, and support that will allow her to perform independent, investigator-initiated clinical research. She has assembled an outstanding team of mentors and collaborators including Jerome Rotter, M.D., the Director of the Division of Medical Genetics at CSMC whose major research interest is in the genetic epidemiology of common diseases; Daniel Cohn Ph.D., a senior molecular geneticist who co-directs the International Skeletal Dysplasia Registry at CSMC, and Michael Weisman, M.D., Director of the Division of Rheumatology at CSMC who is responsible for maintaining the CSMC registry of research subjects and has successfully recruited patients for major NIH-funded outcome studies in RA, OA, SLE, and AS. Together these three mentors have almost 75 years of combined experience and success in training and mentoring residents, and post-doctoral fellows towards academic careers. The K23 award objectives are to 1) further develop her skills in biostatistics, genetics, epidemiology, and research design and methodology; 2) enable her to integrate rheumatology clinical research with genetic studies; and 3) obtain guidance from co-mentors and advisors to facilitate her career development. Her specific aims are to 1) recruit a cohort of 400 probands with hand osteoarthritis (OA) and conduct careful phenotyping of disease through the use of specific, predetermined clinical and radiographic criteria; 2) determine the familiality and heritability of hand OA and specific phenotypes by analyzing study subjects affected by hand OA and their siblings; 3) identify genetic loci for hand OA in general and for different, specific, clinical and radiographic phenotypes using genome-wide association methods. Findings from this study will provide new information on the genetic mechanisms associated with hand OA and may aid our understanding of disease pathogenesis, treatment, and possibly prevention for a condition that causes disability and diminished quality of life in many people. RELEVANCE (See instructions): Hand OA is associated with substantial pain and disability, but little is understood about the underlying basis for disease despite the high prevalence in society. There are few effective therapies for symptom control and none for disease modification. This clinical genetic study may help further the understanding of hand OA pathogenesis and may lead to the development of future therapeutic or preventative interventions.

Mariko Ishimori 博士坚定地致力于临床研究领域的学术生涯。她拥有深厚的风湿病学临床背景和临床研究方面的新兴专业知识。她现在寻求提高她设计和实施未来研究的技能并获得培训，经验和支持将使她能够进行独立的、由研究者发起的临床研究。她组建了一支由导师和合作者组成的杰出团队，其中包括医学博士杰罗姆·罗特 (Jerome Rotter)、华润医学中心医学遗传学教研室主任，主要研究方向为遗传学常见疾病流行病学； Daniel Cohn 博士，高级分子遗传学家，共同指导 CSMC 国际骨骼发育不良登记处，Michael Weisman 医学博士，骨科主任 CSMC 风湿病科负责维护 CSMC 研究对象登记并拥有成功招募患者参加由 NIH 资助的 RA、OA、SLE 和 AS 的主要结局研究。一起这三位导师在培训和指导方面拥有近 75 年的综合经验和成功经验住院医师和博士后研究员走向学术生涯。 K23 奖项的目标是 1) 进一步发展她在生物统计学、遗传学、流行病学以及研究设计和方法方面的技能； 2）启用她将风湿病学临床研究与遗传学研究相结合； 3）获得共同导师的指导和顾问以促进她的职业发展。她的具体目标是 1) 招募 400 人患有手部骨关节炎（OA）的先证者，并通过使用具体的、预定的临床和放射学标准； 2）确定手的家族性和遗传性通过分析受手部 OA 影响的研究对象及其兄弟姐妹，了解 OA 和特定表型； 3）识别手部 OA 的一般遗传位点以及不同的、特定的、临床和放射学表型的遗传位点全基因组关联方法。这项研究的结果将提供有关遗传的新信息与手部 OA 相关的机制，可能有助于我们了解疾病的发病机制、治疗、并可能预防导致许多人残疾和生活质量下降的疾病。相关性（参见说明）：手部 OA 与严重疼痛和残疾有关，但对其根本原因知之甚少尽管疾病在社会上的患病率很高。控制症状的有效疗法很少并且没有用于疾病修饰。这项临床遗传学研究可能有助于进一步了解手部疾病 OA 发病机制可能会导致未来治疗或预防干预措施的发展。