Unfortunately, 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. This capacity problem can now, however, be overcome by a new technology called "Massively Parallel Sequencing (MPS)". This technique provides a unique oppertunity to develop new diagnostic tools for complex genetic diseases.
It aims to extend the genetic diagnostics from the relatively simple monogenic disorders to the more complex genetically heterogeneous disorders.
To do so, a number of model disorders have been selected with increasing genetic complexity and which represent the majority of non-multifactorial genetic disorders. The model disorders selected are:
- Disorders caused by a wide variety of mutations in one or two genes, e.g. hemoglobinopathies and hereditary breast cancer
Disorders caused by mutations in one or two major genes, and several minor genes, e.g.sensory disorders, including blindness, deafness, and Usher syndrome
- Disorders caused by mutations in several equally important causative genes, e.g. paraplegias and ataxias
- Disorders mainly caused by rare mutations in rare genes, e.g. mental retardation
In the TECHGENE project, new massively parallel sequencing diagnostics will be developed for these model disorders and a proof-of-principle will be delivered. The model disorders can be considered as prototypes for a wider group of diseases and thus, in the near future, the tools developed will be applicable on other diseases.
European collaboration and dissemination
In addition to technical and medical know-how, the consortium contains experts on quality management aspects, ethical and societal issues, and cost effectiveness issues. The use of this knowledge will lead to the design of ready-to-use, easy-to implement and medically relevant diagnostic tools; all the tests developed will be fully validated. The cost-effectiveness of the most promising tests will be compared with current practice. This, to establish the added value of the new tests in clinical practice.
Thus, the project brings together a network of SMEs for commercial exploitation of novel tools, experts on genetic disorders and experts in health economics, medical ethics and laboratory quality management. This integrative approach will safeguard a coherent progress of the project.
In addition, a specially designed training programme is set up during the project. This, to ensure a rapid dissemination of the acquired knowledge and tools across Europe. Special attention will be given to knowledge transfer to labs from Central and Eastern Europe.