Since its creation the Institute's research goals have progressively moved from focusing mainly on the identification of genes responsible of genetic diseases to the study of gene function and disease mechanisms. This transition is reflected in the Institute's current research programmes, which are described as follows:

• Cell Biology of Genetic Diseases
• Systems Biology and Functional Genomics
• Molecular Therapy

Cell Biology of Genetic Diseases
It is commonly accepted that there is a growing need in the field of research on genetic diseases to understand the functions of defective genes at the cell and organ levels. In this context, cell biology approaches are obviously essential for the analysis of the cellular functions of disease genes, as well as cellular dysfunctions that result from gene mutations. This knowledge is necessary to reconstruct the overall chain of events that leads from the genetic defect to the clinical manifestation. 
The overall aim of the Cell Biology of Genetic Diseases (CBGD) programme is to understand disease mechanisms through the in depth study of the molecular basis of how cells are organized at the morpho-functional level, how different cell types accomplish their individual tasks, how these different cells cooperate to form tissues and systems, and how mutations in disease genes alter these functions. The final aim is to provide improved management of genetic diseases through the deeper understanding of the underlying molecular and cellular mechanisms, and development of therapeutic tools.

Systems Biology and Functional Genomics
The Systems Biology and Functional Genomics (SBFG) programme  at TIGEM focuses on the development and application of integrated experimental and computational tools in mammalian systems to study genetic diseases and either develop or monitor therapeutic approaches. The team of investigators in this programme comes from medical, biological, engineering and physics background and works in close collaboration with geneticists and molecular biologists within the Institute, thus making TIGEM one of the few interdisciplinary institutes applying systems biology approaches to genetic diseases. Systems biology and functional genomics permeate many of the projects carried out at TIGEM so that the SBFG programme can be viewed as transversal to all other scientific areas.

Molecular Therapy
The mission of TIGEM’s Molecular Therapy (MT) programme is to develop novel strategies for the therapy and prevention of genetic diseases. One of our major research strategies is in vivo vector-mediated gene delivery. The general approach is to develop new vector systems and delivery methods, test them in the appropriate animal models, uncover the mechanisms involved in vector transduction, and move the most promising approaches to the clinic.