ext Generation Sequencing and Induced Pluripotent Stem Cell Applications to clarify diagnosis for those with Genetic and Inheritable Forms of Renal Disease

Genetic Health Queensland, RBWH0 个研究点目标入组 236 人开始时间: 2015年2月13日最近更新: 2024年4月15日

试验速览

暂无简介。

•Two groups of individuals will be recruited for this study:
•-Candidates for participation in the protocol will be affected individuals whose family history and/or phenotype strongly suggests a genetic aetiology and in whom routine genetic testing is:
•a) not clinically available
•b) not feasible given the suspected disorder has high genetic heterogeneity, or
•c) if specific testing for the likely disorder has already failed to arrive at a diagnosis.
•-First-degree relatives of participating patients (father, mother, siblings, or sons and daughters of the patients).
•Patients will be seen and assessed by a nephrologist and/or clinical geneticist in a Renal Genetics Clinic.

•-Declination to participate in the study
•-An insufficient number of direct relatives willing/able to participate in the study. In most cases inclusion in this study will require the participation of the patient and both parents. However, in some cases a combination of factors including the structure of the family pedigree, the suspected mode of inheritance, and information available regarding the specific disease may provide the required level of genetic information and therefore warrant inclusion in the study. This will be determined on a case-by-case basis by the Principal Investigators.

发起方

Genetic Health Queensland, RBWH