First International Symposium on Osteopetrosis:

描述（由申请人提供）： “第一届国际石骨症研讨会：生物学与治疗”将于2003年10月23-24日在美国国立卫生研究院Natcher中心举行。这次会议是由佩吉特基金会联合主办的，旨在促进适用于骨硬化症的临床和基础研究的讨论。其目的是汇集这些患者的骨生物学，遗传学和临床护理领域的领导者，认识到最近在与这种疾病相关的基础和临床研究方面取得了重大进展。本次研讨会的目标在具体目标中概述。约45人将出席。 石骨症是一组异质性遗传性疾病，其特征在于破骨细胞的骨吸收缺陷，导致骨骼质量和骨密度增加。在受影响更严重的个体中，破骨细胞功能的缺乏导致骨髓腔不足以支持造血。 常染色体隐性遗传性骨硬化症在大多数患者10岁之前是致命的，通常是由于骨髓衰竭和出血或感染。直到最近，人类石骨症的分子基础仍然难以捉摸。现在认识到，导致破骨细胞不能酸化细胞外间隙的几种基因缺陷是造成约70%的常染色体隐性骨硬化症的原因。然而，有很少的信息，但有关受影响的个人的基因型和表型的相关性。此外，很明显，还有一些尚未被定义的遗传缺陷。石骨症的治疗方法有限。干扰素-7已被证明可以增加石骨症患者破骨细胞的功能，但这并不普遍，也不一定能维持。造血细胞移植已被证明是有效的，但它是困难的，昂贵的和危及生命的并发症是常见的。 基于关于这些疾病的新信息，由佩吉特基金会联合主办的“第一届石骨症国际研讨会：生物学和治疗”的目标是促进骨生物学、遗传学和临床护理领域的领导者对适用于石骨症疾病的临床和基础研究的讨论。

DESCRIPTION (provided by applicant): "The First International Symposium on Osteopetrosis: Biology and Therapy" will take place at the Natcher Center, National Institutes of Health, on October 23-24, 2003. This meeting, which is jointly sponsored by the Paget Foundation, was organized to facilitate discussion of clinical and basic research applicable to the disorders described as osteopetrosis. The intention is to bring together leaders in the field of bone biology, genetics and clinical care of these patients, recognizing that there has been significant recent gains in basic and clinical research relevant to this disorder. Objectives of this Symposium are outlined in Specific Aims. Approximately 45 persons will attend. Osteopetrosis is a heterogeneous group of inherited conditions characterized by a defect in bone resorption by osteoclasts, leading to an increase in skeletal mass and bone density. In the more severely affected individuals, the lack of osteoclast function leads to a bone marrow cavity insufficient to support hematopoiesis. Autosomal recessive osteopetrosis is fatal in the majority of patients before they reach 10 years of age, generally from marrow failure and bleeding or infections. The molecular basis of human osteopetrosis has remained elusive until very recently. It is now appreciated that several gene defects leading to an inability of osteoclasts to acidify the extracellular space are responsible for approximately 70% of occurrences of autosomal recessive osteopetrosis. However, there is little information yet available regarding the correlation of genotype and phenotype in affected individuals. In addition, it is clear that there are genetic defects that have not yet been defined. Therapeutic approaches for osteopetrosis have been limited. Interferon-7 has been shown to increase the function of osteoclasts from patients with osteopetrosis, but this is not universal, nor is it necessarily maintained. Hematopoietic cell transplantation has been shown to be effective, but it is difficult, expensive and life-threatening complications are commonly observed. Based on the new information available regarding these disorders, the goal of "The First International Symposium on Osteopetrosis: Biology and Therapy," jointly sponsored by The Paget Foundation, is to facilitate discussion of clinical and basic research applicable to the disorders described as osteopetrosis by leaders in the field of bone biology, genetics, and clinical care.