Alexander Fleming - Biomedical Sciences Research Center  
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Eleni Douni's research group

Overview

A forward genetics approach for the identification of novel disease targets

To date, more than 25,000 mammalian genes have been identified, and the challenge now is to understand the physiological, cellular, and biochemical functions of genes and proteins in order to improve treatment for many human diseases. One successful approach, termed forward genetics, entails the generation of random germline point mutations in the mouse using N-ethyl-N-nitrosourea (ENU), the phenotypic screening of mice for specific defects, and the positional cloning of those heritable mutations. This classical genetic method provides the opportunity to track the role of virtually any gene in a particular phenotype without any prior assumption regarding the underlying pathways.

During the last six years we have successfully established forward genetics screens in B.S.R.C. “Al. Fleming” by generating various ENU-derived mouse mutants, in order to identify novel disease targets. Our laboratory pursues a broad range of biological topics including immunological, skeletal or neuromuscular diseases.

  

Animal models of osteoimmunological diseases

Animal models of neuromuscular diseases

Collaborative research