Medical progress has been slow reflecting modest improvement in understanding how biological systems function and how they are regulated in human and animal. To reveal the limitations of biomedical research and medical practice, we have to simply look at prevention, treatment and cure rates of major complex diseases in economically developed countries. No cure can be achieved with a short-term medication for most common disorders. For example, cardiovascular, cancer, diabetes, neurodegenerative, behavioural and other chronic diseases are currently treated by long-term administration of multiple drugs. Currently available diagnostics tools mostly identify a common disease after the clinical manifestation of symptoms. But in most cases, at this stage of evident diagnosis, structural and functional perturb of human genome cannot be fully restored. The drugs currently use usually simply delaying complication and death while no cure is achievable.
In this article it is discussed why the greatest challenges to understand how the structural variation in human genome is linked with functional deregulation of genome leading to diseases can be achieved with large-scale international research consortiums. Challenges and opportunities of multidisciplinary research groups to understand gene regulation and predictive models of functional regulatory networks are also discussed with aim to reach translational medicine and improved healthcare.