CONFERENCE ON MULTIPLE HEREDITARY EXOSTOSES

描述（由申请人提供）：本申请寻求对 有史以来第一次会议上举行的多发性遗传性外生骨疣（MHE），人类 影响生长板肿瘤形成的综合征。MHE是一种使人衰弱的 以终生良性骨畸形为特征的疾病， 明显恶性肿瘤的病例百分比。他们提议召集一群 医生和科学家讨论这种疾病的各个方面， 临床表现和当前的治疗，分子遗传学， 生物化学和潜在的治疗策略。本次首次会议将 规模要小，而且只邀请该领域的主要研究人员， 可以互相了解，建立合作，并共同计划 如何更好地对抗这种疾病他们还计划邀请 MHE联盟的几位代表， 代表400多个受MHE影响的家庭的组织，参加 并将信息反馈给他们的成员。此外，本发明还提供了一种方法， 他们将举办两个向公众开放的研讨会， 对MHE的理解和对未来的展望。 两位组织者，斯科特·塞莱克，医学博士，哲学博士、和杰夫·埃斯科博士都是 积极参与了解MHE的分子基础，并在 MHE联盟的科学顾问委员会。Selleck医生，私家侦探， 最近被任命为亚利桑那州癌症中心的分子遗传学主任， 亚利桑那大学埃斯科博士，共同PI，是一个世界知名的专家， 糖胺聚糖的合成和功能，目前是细胞 加州大学圣地亚哥分校医学系 学校亚利桑那州癌症中心，NCI指定的综合癌症 中心，已同意作为会议场地，提供会议室， 设施，并将赞助开幕晚宴。 计划的课程包括：1）MHE的临床介绍，2）医学 遗传学，3）生物化学，4）骨发育和修复，5）MHE模型和两个 讲习班，在与疾病和治疗视野生活的问题。他们 从该领域的研究人员中挑选演讲者， 临床和研究界的元素，并促进合作 跨越学科界限。

DESCRIPTION (provide by applicant): This application seeks support for the first meeting ever to be held on Multiple Hereditary Exostoses (MHE), a human syndrome affecting formation of growth plate tumors. MHE is a debilitating disorder characterized by benign, bony malformations throughout life, and in a percentage of cases, overt malignancy. They propose to bring together a group of physicians and scientists to discuss every aspect of this disease, from clinical presentation and current treatments, to molecular genetics, biochemistry, and potential therapeutic strategies. This initial meeting will be small and by invitation only so that the leading researchers in the field can get to know one another, establish collaborations, and collectively plan how they can best further the attack on this disease. They also plan to invite several representatives of the MHE Coalition, a nonprofit, grassroots organization representing more than 400 families affected by MHE, to attend the entire conference and provide information back to their members. In addition, they will hold two workshops open to the public, summarizing the current understanding of MHE and prospects for the future. The two organizers, Scott Selleck, M.D., Ph.D., and Jeff Esko, Ph.D. are both actively involved in understanding the molecular basis of MHE and serve on the scientific board of advisors for the MHE coalition. Dr. Selleck, the PI, was recently appointed Director of Molecular Genetics at the Arizona Cancer Center, the University of Arizona. Dr. Esko, co PI, is a world renowned expert on glycosaminoglycan synthesis and function, and is currently Professor of Cell and Molecular Medicine at the University of California, San Diego Medical School. The Arizona Cancer Center, an NCI designated comprehensive cancer center, has agreed to serve as the conference site, providing meeting rooms, facilities, and will sponsor the opening night dinner. The sessions planned include: 1) Clinical presentation of MHE, 2) medical genetics, 3) biochemistry 4) bone development and repair, 5) MHE models and two workshops, Issues in living with the disease and Therapeutic horizons. They have selected speakers from the researchers in the fields in order to educate elements of the clinical and research community, and foster collaborations across discipline boundaries.