The Genetics of Hand Osteoarthritis Study (GHOST)

手部骨关节炎的遗传学研究 (GHOST)

• 批准号: 8048096
• 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
• 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/8048096
• 关键词: Acquired Immunodeficiency Syndrome; Affect; Age; Age-Years; Anatomy; Biometry; Candidate Disease Gene; Characteristics; Chronic; Clinical; Clinical Research; Commit; Data; Degenerative polyarthritis; Disease; Distal; Doctor of Medicine; Doctor of Philosophy; Epidemiologic Studies; First Degree Relative; Frequencies; Funding; Future; Genetic; Genetic Determinism; Goals; Hand; Heart Diseases; Heberden' s Node; Heritability; International; Investigation; Joints; Light; Location; Malignant Neoplasms; Medical Genetics; Mentored Patient-Oriented Research Career Development Award; Mentors; Metacarpal bone; Methods; Molecular; Molecular Genetics; Morbidity - disease rate; Nodal; Outcome Study; 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; Spouses; Study Subject; Synovitis; Systemic Lupus Erythematosus; 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; experience; genetic association; genetic epidemiology; genetic risk factor; genome wide association study; genome-wide; insight; interest; proband; skeletal dysplasia; skills; success

DESCRIPTION (provided by applicant): 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.

描述（由申请人提供）：Mariko Ishimori 博士坚定地致力于从事临床研究的学术生涯。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。她现在寻求提高设计和实施未来研究的技能，并获得培训、经验和支持，使她能够进行独立的、由研究者发起的临床研究。她组建了一支优秀的导师和合作者团队，其中包括华润医学医学遗传学部主任 Jerome Rotter, M.D.，主要研究方向为常见疾病的遗传流行病学； Daniel Cohn 博士是一位高级分子遗传学家，共同负责 CSMC 国际骨骼发育不良登记处；Michael Weisman 医学博士是 CSMC 风湿病科主任，负责维护 CSMC 的研究对象登记处，并已成功招募患者参加由 NIH 资助的 RA、OA、SLE 和 AS 等主要结果研究。这三位导师在培训和指导住院医生和博士后研究员走向学术职业方面总共拥有近 75 年的经验和成功。 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）使她能够将风湿病临床研究与遗传学研究结合起来； 3）获得共同导师和顾问的指导，以促进她的职业发展。她的具体目标是 1) 招募 400 名患有手部骨关节炎 (OA) 的先证者，并通过使用特定的、预先确定的临床和放射学标准对疾病进行仔细的表型分析； 2) 通过分析受手部 OA 影响的研究对象及其兄弟姐妹，确定手部 OA 的家族性和遗传性以及特定表型； 3) 使用全基因组关联方法识别手部 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。这项研究的结果将提供与手部 OA 相关的遗传机制的新信息，并可能有助于我们了解疾病的发病机制、治疗以及可能导致许多人残疾和生活质量下降的疾病的预防。