Center for functional analysis of human UDN gene homologs in Drosophila and zebrafish

摘要 BCM和俄勒冈大学MOSC的这份补充申请建议继续研究 并描述了UDN的临床站点在 第二阶段，以及预计在来年提交的新材料。我们需要确保所有人 已被临床站点接受的患者一视同仁，并有公平的机会 被诊断出来。因此，我们将继续对苍蝇Mosc和12个基因进行正在进行的实验 鱼的MOSC基因在第一和第二阶段提交。我们已经收集到的数据表明 这些变异中的许多可能是因果关系，现在的目标是获得更令人信服的证据 他们确实是疾病的起因，并与UDN网站合作发布数据。 根据以往的经验，在我们发表了我们的报告后，全世界正在诊断出许多病例 超过200名罕见疾病患者从我们的出版物中受益。正在完成 正在进行的案件和预期的新案件将需要非常大量的资源和 在两个站点都工作。这项工作非常繁重，需要补充所需的资源 在私人捐助者的资助和机构支持下。考虑到大量有记录的 从排序到提交MOSC之间的时间间隔，我们预计许多案件将 明年将由临床站点提交的病例将是第一阶段和第二阶段接受的病例。 如果我们认为我们能及时建模，我们就会接受其中的许多案例，即使这会 超过资助期，我们将寻求其他来源的支持

SUMMARY This supplemental application for the BCM and U of Oregon MOSC proposes to continue to study and characterize variants in genes that have been submitted by the clinical sites of the UDN during phase II as well as anticipated new submissions in the coming year. We need to ensure that all patients that have been accepted by the clinical sites are treated equally and have a fair chance of being diagnosed. Hence, we will continue ongoing experiments on 32 genes in the fly MOSC and 12 genes in the fish MOSC submitted in phase I and II. We have already gathered data that suggest that many of these variants may be causative and the goal is now to obtain more compelling evidence that they are indeed the cause of disease and to publish the data in collaboration with the UDN sites. Based on previous experience, numerous cases are being diagnosed world-wide after we publish our work and well over 200 patients with rare diseases have benefited from our publications. Completing ongoing cases and anticipated new cases will require a very significant amount of resources and work at both sites. The work is so substantial that requested resources will need to be complemented with funding from private donors as well as institutional support. Given the considerable documented time lag between sequencing and submission to the MOSCs, we anticipate that many cases that will be submitted in the next year by the clinical sites will be cases that were accepted in phase I and II. We will accept many of these cases if we think we can model them in a timely fashion, even if this will exceed the funding period and we will therefore seek support from other sources