| lühikokkuvõte: |
Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed. However, the majority of genetic diseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze several genes in parallel. The recently introduced high-throughput whole genome sequencing (WGS) technology now offers the unique opportunity to extend molecular genetic analysis by introducing these techniques, and develop taylormade medical resequencing approaches for molecular genetic diagnosis of heterogeneous disorders. This project aims to deliver crucial innovations leading to these approaches, and to deliver a proof-of-principle for its implementation in selected model disorders. The model disorders have been selected with increasing genetic complexity, and represent the majority of non-multifactorial genetic disorders. The current momentum to perform these innovations by a European consortium of clinical genetic diagnostic laboratories and research laboratories and industrial stakeholders will lead to a front-running position of European laboratories and small and medium enterprises (SMEs) in this field. The consortium putting forward this proposal consists of leading scientists and established laboratories providing cutting edge knowledge with respect to quality management aspects, ethical and societal issues, and cost effectiveness issues. This is the only approach that will warrant the development of diagnostic tools designed to restrict genetic testing to relevant medical factors. For European SMEs this proposal offers the opportunity to identify niches in the steadily increasing molecular genetic market. A specially designed training programme will take care of rapid dissemination of the acquired knowledge and tools across Europe. |
