Columbia University, New York, New York 10032, USA.
Annu Rev Med. 2012;63:1-22. doi: 10.1146/annurev-med-050710-134457.
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.
我的母亲利奥诺雷（Leonore）于 1968 年被诊断出患有亨廷顿舞蹈症（HD），当时她 53 岁。我 23 岁，姐姐爱丽丝（Alice）26 岁，父亲米尔顿·韦克斯勒（Milton Wexler）60 岁。同年，我们的父亲创立了遗传性疾病基金会（HDF），致力于寻找亨廷顿舞蹈症的治疗方法和治愈方法。HD 是一种常染色体显性、神经退行性疾病。我和爱丽丝各有 50%的机会遗传该病并因此死亡。在过去的 43 年里，我们一直自豪地改变着科学的面貌。通过米尔顿·韦克斯勒跨学科研讨会、明智的资助，以及专注于创新和创造力，HDF 是关键发现的重要合作伙伴。HDF 在全球范围内招募并支持了 100 多名科学家，他们作为亨廷顿舞蹈症合作研究小组一起工作，成功地进行了长达十年的寻找 HD 基因的探索。我们在 1983 年发现了 HD 基因的 DNA 标记——这是在染色体位置未知的情况下发现的第一个标记。十年后我们分离出了 HD 基因本身。这些突破帮助启动了人类基因组计划。我们支持创建了第一个亨廷顿舞蹈症的小鼠模型和许多其他模型系统。目前，我们专注于基因沉默等方法，以创造新的治疗方法和治愈方法。
