An increasing proportion of human diseases is being recognized as resulting from the effect of inherited as well as somatically acquired gene mutations and/or epimutations. Identifying the corresponding genes and mutations, as well the pathophysiological mechanisms underlying these disorders would be an important step in the path towards improved prevention, diagnosis and treatment of diseases.
The purpose of this network is to make ground-breaking contributions in:
(i) identifying the genes undergoing causal (epi-)mutations or copy-number variations in a number of important diseases including malignancies, cardiovascular, renal, metabolic and chronic pulmonary disorders,
(ii) understanding the normal physiological modus operandi of these genes and their products, whether proteins or non-coding RNAs,
(iii) understanding how the (epi-)mutations perturb these normal functions and ultimately cause disease.