结合干细胞和基因治疗技术来解决一种致命的血液病

研究人员在星期五和星期日讨论他们的刺激计划的项目

2010年10月22日
波士顿，大众。•国家卫生研究院已经颁发了三年，390万美元的补助金波士顿儿童医院研究人员和他们的同事开发了一种治疗方法范可尼贫血一种致命的遗传性血液病。

研究人员将研究新的方法来创建诱导多能干细胞（iPS）从病人的皮肤或其他组织细胞，并将其转化为基因修复造血干细胞，可以使正常的血细胞。

范可尼贫血 is characterized by progressive bone marrow failure, multiple congenital anomalies and a predisposition to癌症。 Somehow, a defect in DNA repair causes progressive blood stem cell loss, usually resulting in death by age 20。 Although the rare syndrome could potentially be treated with gene therapy, since it usually results from a single genetic mutation, the same DNA repair defect has thwarted gene therapy efforts to date。 The team will push to understand the barriers to genetic correction of 范可尼贫血 in mice, hoping their findings will translate to patients。

这个研究项目是达纳法伯儿童医院癌症护理三成员之间的合作威廉姆斯戴维，医学博士血液\/肿瘤科主任及翻译研究主任，George Daley博士，医学博士，干细胞移植主任艾伦。D。，MD放射肿瘤学研究主任。

两家共同的主要调查者将在本周末在波士顿召开的国际儿科肿瘤学会，世界上最大的儿科肿瘤会议上讨论他们的努力。http:\/\/www。siopboston2010。com\/

• On Friday, Oct。 22, 10:30-noon (Ballroom A), Williams will give a talk titled "Somatic Cell Reprogramming to Facilitate Genetic Correction in Fanconi Anemia" in a session on gene therapy and pediatric oncology。 Williams, who completed an early study in children with 范可尼贫血 to try to genetically correct endogenous blood stem cells, will discuss how clinical trials have defined a new research focus。 "At the end of three years, one hope would be, in the mouse system, to generate corrected iPS cells and be able to differentiate them into corrected blood stem cells," Williams says。
  
• On Sunday, Oct。 24, 3-3:30 pm (Auditorium), Daley will give a keynote talk titled "Modeling Bone Marrow Failure Syndromes with Induced Pluripotent Stem Cells。" Daley plans to address some of the limitations of reprogramming 范可尼贫血 cells。 "The grant is aimed at defining precisely what mechanism is lacking in Fanconi cells that is required for efficient reprogramming," Daley says。 "We believe the DNA repair defects of Fanconi cells are a problem-because the reprogramming technique may stress the DNA repair response and make them relatively resistant to reprogramming。 With improved methods, we should achieve reprogramming of Fanconi cells too。"

The grant combines the efforts of three leading experts in the field。 Their three projects are connected by common goals: To better understand the reprogramming technology and DNA repair pathways involved in 范可尼贫血 cells first in mice, and then to leverage those insights for rapid development of new therapeutic approaches for translation to patients。

威廉姆斯的小组将专注于重新编程患者特定细胞，利用国家的最先进的方法，对这些细胞进行基因改造，并将其转化为功能性造血干细胞移植。Daley实验室将探索如何在DNA双链断裂修复缺陷影响iPS细胞重编程。D。团队将集中在如何造血干细胞缺陷产生骨髓衰竭和测试新的潜在治疗作用的小分子的细节。

The 范可尼贫血 grant marked Children's Hospital final research award from the 2009 American Recovery and Reinvestment Act, the biggest boost in federal research funding in U。S。 history。 The stimulus funding infused hospital labs and clinics with about $55 million in direct support of more than 100 projects。

Dana-Farber/Children's Hospital Cancer Care is a top referral center for children with 范可尼贫血 and is hosting the international oncology meeting at the John B。 Hynes Veterans Memorial Convention Center。

媒体注册：
要了解更多关于国际儿科肿瘤学会（SIOP）或登记的新闻室，联系特蕾莎赫伯特，资深公关专家，达纳法伯癌症研究所teresa_herbert@dfci。harvard。edu；617-632-4090。

接触：
安德鲁斯贝丝
617-919-3110
elizabeth。andrews @childrens。harvard。edu

波士顿儿童医院 is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869。 More than 1,100 scientists, including nine members of the National Academy of Sciences, 12 members of the Institute of Medicine and 13 members of the Howard Hughes Medical Institute comprise Children's research community。 Founded as a 20-bed hospital for children, 波士顿儿童医院 today is a 392-bed comprehensive center for pediatric and adolescent health care grounded in the values of excellence in patient care and sensitivity to the complex needs and diversity of children and families。 Children's also is the primary pediatric teaching affiliate of Harvard Medical School。 For more information about the hospital and its research visit:www。childrenshospital。org\/newsroom。

达纳-法伯癌症研究所（www。dana-farber。org) is a principal teaching affiliate of the Harvard Medical School and is among the leading 癌症 research and care centers in the United States。 It is a founding member of the Dana-Farber/Harvard Cancer Center (DF/HCC), designated a comprehensive 癌症 center by the National Cancer Institute。 It provides adult 癌症 care with Brigham and Women's Hospital as Dana-Farber/Brigham and Women's Cancer Center and it provides pediatric care with 波士顿儿童医院 as Dana-Farber/Children's Hospital Cancer Center。 Dana-Farber is the top ranked 癌症 center in New England, according to U。S。 News & World Report, and one of the largest recipients among independent hospitals of National Cancer Institute and National Institutes of Health grant funding。

（注：转载时请注明复诊网）