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Huntington's disease: advocacy driving science.

机译:亨廷顿的疾病:宣传推动科学。

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My mother, Leonore, was diagnosed with Huntington's disease (HD) in 1968 at age 53. I was 23, my sister Alice 26, and our father, Milton Wexler, 60 years old. The same year, our father created the Hereditary Disease Foundation (HDF), dedicated to finding treatments and cures for HD. HD is an autosomal dominant, neurodegenerative disorder. Alice and I each have a 50% chance of inheriting and dying from the disorder. Over the past 43 years, we have been proud to change the face of science. Through Milton Wexler Interdisciplinary Workshops, judicious funding, and focusing on innovation and creativity, the HDF is an integral partner in key discoveries. The HDF recruited and supported >100 scientists worldwide who worked together as the Huntington's Disease Collaborative Research Group in a successful ten-year search for the HD gene. We found a DNA marker for the HD gene in 1983-the first marker to be found when the chromosomal location was unknown. We isolated the HD gene itself a decade later. These breakthroughs helped launch the Human Genome Project. We supported creating the first mouse model of HD and many other model systems. Currently, we focus on gene silencing, among other approaches, to create new treatments and cures.
机译:我的母亲leonore于1968年被诊断出患有亨廷顿的疾病(HD),在53岁时。我是23岁,我的妹妹爱丽丝26,我们的父亲,60岁。同年,我们的父亲创造了遗传性疾病基础(HDF),致力于寻找治疗和治疗HD。 HD是常染色体显性,神经变性障碍。爱丽丝和我每个人都有50%的机会从这种疾病中遗传和死亡。在过去的43年中,我们很自豪地改变科学的面貌。通过Milton Wexler跨学科研讨会,明智的资金,专注于创新和创造力,HDF是关键发现中的一个组成部分。 HDF招募和支持> 100世纪的科学家们在亨廷顿的疾病协作研究小组中合作,在成功的十年中寻找高清基因。我们发现1983年的HD基因的DNA标记 - 当染色体位置未知时要发现的第一个标记。我们稍后将HD基因分离出来。这些突破有助于启动人类基因组项目。我们支持创建HD和许多其他模型系统的第一个鼠标模型。目前,我们专注于基因沉默,以及其他方法,创造新的治疗和治疗。

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