The Genetics of Hand Osteoarthritis Study (GHOST)

石森真理子博士坚定地致力于临床研究的学术生涯。她 拥有强大的风湿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、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Jerome Rotter，M.D.，The 中华医学会医学遗传学部主任，主要研究基因 常见疾病流行病学；丹尼尔·科恩博士，高级分子遗传学家，共同指导 CSMC国际骨骼发育不良登记中心主任Michael Weisman，M.D. CSMC的风湿病学家，负责维护CSMC研究对象的注册，并 成功招募患者参加由美国国立卫生研究院资助的RA、OA、SLE和AS的主要结果研究。同舟共济 这三位导师在培训和指导方面有近75年的经验和成功。 住院医生和博士后研究员向学术生涯迈进。K23奖项的目标是1)进一步 培养她在生物统计学、遗传学、流行病学以及研究设计和方法方面的技能；2)使 她将风湿病临床研究与遗传学研究相结合；以及3)从共同导师那里获得指导 和顾问，以促进她的职业发展。她的具体目标是招募400人 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；2)确定手的熟悉度和遗传度 通过分析受手性骨性关节炎及其兄弟姐妹影响的研究对象和特定的表型；3)确定 手性骨性关节炎的一般和不同的、特殊的、临床和放射学表型的遗传基因座 全基因组关联方法。这项研究的发现将提供关于基因的新信息 与手部骨关节炎相关的机制，可能有助于我们理解疾病的发病机制，治疗， 并可能预防一种导致许多人残疾和生活质量下降的疾病。 相关性(请参阅说明)： 手部骨关节炎与严重疼痛和残疾有关，但对其潜在基础了解甚少。 尽管疾病在社会中的高流行率。控制症状的有效疗法很少。 没有用于疾病修饰的。这项临床遗传学研究可能有助于加深对手的认识 OA的发病机制，并可能导致未来的治疗或预防干预的发展。

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.