The Genetics of Hand Osteoarthritis Study (GHOST)

Mariko Ishimori博士坚定地致力于追求临床研究的学术生涯。她 拥有强大的风湿病学临床背景和新兴的临床研究专业知识。她 现在寻求提高她在设计和实施未来研究方面的技能，并获得培训， 经验和支持，这将使她能够进行独立的，制药商发起的临床研究。 她组建了一支由导师和合作者组成的优秀团队，其中包括医学博士杰罗姆罗特，的 CSMC医学遗传学部主任，主要研究方向是遗传学 常见疾病流行病学;丹尼尔科恩博士，他是一位资深分子遗传学家， CSMC的国际骨骼发育不良登记处和Michael Weisman，M.D.，司司长 CSMC的流变学负责维护CSMC的研究受试者登记， 成功招募患者用于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年的经验和成功经验 居民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，研究设计和方法学方面的技能; 2）使 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名 手骨关节炎（OA）的先证者，并通过使用 具体的，预先确定的临床和放射学标准; 2）确定手的家族性和遗传性 OA和特定表型，通过分析受手OA影响的研究对象及其兄弟姐妹; 3）识别 一般手部OA的遗传基因座以及不同的、特异性的、临床和放射学表型， 全基因组关联方法。这项研究的结果将为遗传学提供新的信息。 与手OA相关的机制，可能有助于我们理解疾病的发病机制，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OA与严重的疼痛和残疾有关，但对其潜在的基础知之甚少 尽管疾病在社会中的流行率很高。几乎没有有效的治疗方法来控制症状 而没有用于疾病改良。这项临床遗传学研究可能有助于进一步了解手 OA的发病机制，并可能导致未来的治疗或预防干预措施的发展。

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.