NHGRI/DIR Technology Transfer Program

技术转让办公室（TTO）促进NHGRI的研究实验室和其他研究实体（包括大学，非营利组织和公司）之间的互动，以促进公共卫生。TTO通过协助将NHGRI开发的技术转让给私营部门以进一步开发和商业化，以及通过使用各种法律的文书管理与制药和生命科学公司的正式关系来履行其使命。TTO还确保NHGRI与外部科学团体之间快速有效地交换研究资源，并确保遵守相关法律和政策。 在2008财政年度处理和评估了10份员工发明报告（EIR），迄今已提交了6项新的专利申请。EIR标题的实例如下：用于检测基因毒素的细胞系;作为血吸虫病治疗的取代的恶二唑2-氧化物;甲基丙二酸血症的基因治疗;作为Cruzain和Rhodesain的抑制剂以及作为查加斯病和非洲锥虫病的一线治疗的取代的三嗪;人丙酮酸激酶的小分子活化剂;促甲状腺激素受体激动剂;蛋白激酶家族的分析揭示了黑素瘤中ERBB 4的高频率突变;基质金属蛋白酶家族的分析揭示了MMP-8在黑素瘤中经常突变;作为人酪氨酸-DNA磷酸二酯酶（Tdp 1）抑制剂的dephostatin衍生物和蛋白酪氨酸磷酸酶抑制剂;以及PDE 4A、PDE 4 B和PDE 4D的抑制剂。 新的2008财政年度执行了有条件的捐赠基金协议，并授予非NIH研究奖学金，重点关注以下人类疾病研究主题：皮肤恶性黑色素瘤;甲基丙二酸血症（MMA）; Charcot-Marie Tooth病;急性髓性白血病（AML）和慢性髓性白血病（CML）; Smith-Magenis综合征;髓样囊性肾病（MCKD）; Cooleys贫血;乳腺癌（特别是在具有BRCA 1和BRCA 2突变的大家族中鉴定促成临床表型的新遗传因素）;和DM 1型肌强直性营养不良。 此外，我们还获得了研究奖项和捐款，以支持几个以犬类为重点的研究项目，包括：标准贵宾犬的鳞状细胞癌;伯尔尼山犬的恶性组织细胞增生症（MH）;苏格兰梗和西部高地白色梗的移行细胞癌基因图谱;以及鉴定调节葡萄牙水犬阿狄森病的基因。 在2008财政年度，我们执行了涉及以下技术和正在申请专利的发明的几项新许可：抗体（AIB 1，一种新型类固醇受体共激活剂）和质粒（pASP-1，全长pASP构建体（pASP-10.7，含有 NACP-Repl基因座）用作研究试剂;以及两个专利申请（标题为“用于分析用于分类、诊断、验证和/或预测疾病和其他生物状态的高维数据的方法”和“基因的选择和使用其用于诊断和靶向选择癌症的治疗的方法”）用于开发儿童癌症诊断和预后测试。我们收到了使用N-乙酰甘露糖胺（ManNAc）作为治疗剂治疗遗传性包涵体肌病（HIBM）和其他肌肉萎缩以及肾功能减退性疾病的许可申请。

The Technology Transfer Office (TTO) facilitates interactions between NHGRI's research laboratories and other research entities, including universities, non-profit organizations and companies, for the benefit of public health. TTO carries out its mission by assisting in the transfer of NHGRI-developed technologies to the private sector for further development and commercialization and by managing formal relationships with pharmaceutical and life sciences companies through the use of various legal instruments. The TTO also ensures the speedy and efficient exchange of research resources between NHGRI and outside scientific groups and assures compliance with relevant laws and policies. 10 employee invention reports (EIRs) were processed and evaluated in FY2008 and six new patent applications have been filed to date. Example EIR titles are as follows: cell line for detection of genotoxin; substituted oxadiazole 2-oxides as a treatment of schistosomiasis; gene therapy for methylmalonic acidemia; substituted triazincs as inhibitors of Cruzain and Rhodesain and as front line therapies for Chagas Disease and African Trypanosomiasis; small molecule activators of human pyruvate kinase; thyroid stimulating hormone receptor agonists; analysis of the protein kinase family reveals a high frequency of mutations in ERBB4 in melanoma; analysis of the matrix metalloproteinase family reveals MMP-8 is often mutated in melanoma; dephostatin derivatives and protein tyrosine phosphatase inhibitors as inhibitors of human tryosyl-DNA phosphodiesterase (Tdp1); and inhibitors of PDE4A, PDE4B and PDE4D. New FY2008 executed conditional gift fund agreements and awarded non-NIH research fellowships focused on the following human disease research topics: cutaneous malignant melanoma; methylmalonic acidemia (MMA); Charcot-Marie Tooth disease; acute myelogenous leukemia (AML) and chronic myelogenous leukemia (CML); Smith-Magenis syndrome; medullary cystic kidney disease (MCKD); Cooleys anemia; breast cancer (specifically identification of novel genetic factors contributing to clinical phenotypes in large families with BRCA1 and BRCA2 mutations); and Myotonic Dystrophy Type DM1. In addition, we received research awards and donations to support several canine-focused research projects including: squamous cell carcinoma in the standard poodle; malignant histiocystosis (MH) in the Bernese Mountain Dog; mapping of the gene for transitional cell carcinoma in the Scottish Terrier and West Highland White Terrier; and Identifying genes regulating Addisons disease in the Portuguese Water Dog. In FY2008 we executed several new licenses involving the following technologies and patent-pending inventions: an antibody (AIB1, a novel steroid receptor co-activator) and a plasmid (pASP-l, the full-length pASP construct (pASP-I0.7, containing the NACP-Repl locus) for use as research reagents; and two patent applications (entitled Methods for analyzing high dimensional data for classifying, diagnosing, prognosticating and/or predicting diseases and other biological states" and "Selections of genes and methods of using the same for diagnosis and for targeting the therapy of select cancers") for use in the development of childhood cancer diagnostic and prognostic tests. We received in a license application for the use of N-acetyl mannosamine (ManNAc) as a therapeutic agent to treat Hereditary Inclusion Body Myopathies (HIBM) and other muscular atrophies as well as hyposialyation kidney disorders.