D. 霍尔姆斯-莫顿 乡村医生和研究医生

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D. Holmes Morton
Country Doctor and Research Physician | Class of 2006
Working tirelessly with rural communities to revolutionize service, research, prescriptions, and outcomes for clinical treatment of rare genetic diseases.

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Title
Country Doctor and Research Physician
Affiliation
Clinic for Special Children
Location
Strasburg, Pennsylvania
Age
55 at time of award
Area of Focus
Health Care Delivery, Public Health and Biomedical/Health Sciences
Published September 1, 2006
ABOUT D. HOLMES' WORK
D. Holmes Morton is a unique amalgam of country doctor and research physician whose model for diagnosis and treatment of hereditary metabolic disease is redefining research, prescriptions, and outcomes in the field of pediatric genetics. From his Clinic for Special Children, a primary care facility in a farming community in Strasburg, Pennsylvania, Morton treats Amish and Mennonite children afflicted with genetic diseases. He has successfully reduced child mortality in this isolated community by combining state-of-the-art medical care with dedicated, personal attention and extensive follow-though. At its inception, the Clinic focused on the treatment of two rare genetic disorders, Maple Syrup Urine Disease (MSUD), which often leads to coma or mental retardation, and Glutaric Aciduria Type 1, which produces a form of injury commonly mistaken for cerebral palsy and requires immediate diagnosis and treatment to prevent irreversible brain damage. His research findings have influenced the work of many in the mainstream medical community. Indeed, a number of the disorders Morton treats cluster in populations in Europe and in the Middle East, and his Clinic has become an international resource for diagnosis and treatment. Currently, Morton and his staff have begun systematically to investigate and treat genentically based maladies not specifically concentrated in Amish and Mennonite communities, including autism, seizure disorders, and mental retardation, with the aim of understanding better how these more common ailments present in highly isolated groups. In demonstrating the effectiveness and feasibility of a specialized model of clinical care for treatment of rare diseases, Morton has expanded the possibilities for customized medicine in the service of small communities while simultaneously advancing mainstream modern medical discovery.

BIOGRAPHY
D. Holmes Morton completed an Individualized Degree Program at Trinity College in 1979, received an M.D. (1983) from Harvard Medical School, and completed his residency at Children’s Hospital in Boston. He also conducted biochemical genetics research at Johns Hopkins University and at the Children’s Hospital of Philadelphia. He has been the director of the Clinic for Special Children since he co-founded the organization with his wife in 1989. Morton’s articles have appeared in such publications as Nature Genetics, the American Journal of Medical Genetics, and Pediatrics.



D. 霍尔姆斯-莫顿
乡村医生和研究医生 | 2006级
不懈地与农村社区合作，彻底改变罕见遗传病临床治疗的服务、研究、处方和结果。

霍尔姆斯-莫顿的肖像
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标题
乡村医生和研究医生
所属机构
特殊儿童诊所
地点
宾夕法尼亚州斯特拉斯堡
年龄
获奖时55岁
重点领域
卫生保健服务、公共卫生和生物医学/卫生科学
2006年9月1日发表
关于D. Holmes的工作
D. 霍姆斯-莫顿是一位独特的乡村医生和研究型医生，他对遗传性代谢疾病的诊断和治疗模式正在重新定义儿科遗传学领域的研究、处方和结果。莫顿在他的特殊儿童诊所--宾夕法尼亚州斯特拉斯堡的一个农业社区的初级保健机构，治疗患有遗传病的阿米什和门诺教派儿童。他通过将最先进的医疗服务与专门的个人关注和广泛的随访相结合，成功地降低了这个孤立社区的儿童死亡率。诊所成立之初，重点是治疗两种罕见的遗传性疾病，即经常导致昏迷或智力迟钝的枫糖浆尿病（MSUD），以及谷氨酸尿病1型，该病产生的伤害形式通常被误认为是脑瘫，需要立即诊断和治疗以防止不可逆转的大脑损伤。他的研究结果影响了主流医学界许多人的工作。事实上，莫顿治疗的一些疾病聚集在欧洲和中东的人口中，他的诊所已经成为诊断和治疗的国际资源。目前，莫顿和他的员工已经开始系统地调查和治疗基于基因的疾病，这些疾病并不特别集中在阿米什和门诺教派社区，包括自闭症、癫痫症和智力迟钝，目的是更好地了解这些更常见的疾病是如何在高度孤立的群体中出现的。在证明治疗罕见疾病的专门临床护理模式的有效性和可行性方面，莫顿扩大了为小社区服务的定制医疗的可能性，同时也推进了现代医学的主流发现。

个人简历
D. 霍姆斯-莫顿于1979年完成了三一学院的个性化学位课程，获得了哈佛医学院的医学博士学位（1983年），并在波士顿的儿童医院完成了他的住院医生。他还在约翰霍普金斯大学和费城儿童医院进行生化遗传学研究。自1989年与妻子共同创建特殊儿童诊所以来，他一直担任该组织的主任。莫顿的文章发表在《自然遗传学》、《美国医学遗传学杂志》和《儿科》等刊物上。