About the project

The interdisciplinary project design of Global Genes features three biobanking and genomic screening models. Biological samples collected in US, Pakistan and through an international patient organization will be genetically screened with next generation sequencing methods, with a focus to identify mutated novel cilia- and centrosome-related genes that represent novel ciliopathy candidates, but have not yet been coupled to a disease. This biological/genetic focus was chosen since ciliopathies are pleiotropic causing dysfunction of a variety of organs. Genes encoding the ciliome constitute 1/20 of the human genome, but the number of known ciliopathies is still <100. The individual ciliopathy will likely be an orphan disorder, but will frequently have implications for phenotypically overlapping common complex disorders. Moreover, since the cilium proteome is known, targeted approaches can be used to identify candidate disease genes and study their function.

Simultaneously, these models will serve as cases for studies of donor motivation, stakeholder attitudes/concerns and legal/commercialization issues to identify concrete barriers for cross-national biobank based research and utilization of research results.

The project will further analyze how national biobanks contribute to translational research in Denmark and abroad, what opportunities and challenges the regulations present for translational use of biobanks, how inter-biobank coordination and collaboration occurs on various levels, and how academic and industrial exploitation, ownership and IPR issues are facilitated and addressed.

We further address the schism between the international character of the cooperation and the territorial nature of the legislation, by the inclusion of vulnerable populations (e.g. in Pakistan, where a high degree of illiteracy contradicts the general rule of written informed consent), by the inclusion of USA with extensive legislation, and by the inclusion of patient support group(s) as a preparation for a future paradigm shift where patients will increasingly interact directly with researchers across national boundaries.

Based on true interdisciplinarity this project will take the University of Copenhagen to a new level in the field of biobank related research by developing and embedding new guidelines in a university setting. This will make UCPH a progressive contributor to the already existing unique Danish biobank infrastructure.