I am a paediatrician specialized in paediatric endocrinology and neurology. I am MD and PhD with special interest in PWS. I am working as a consultant in paediatric endocrinology and in general paediatrics at the Karolinska Hospital in Stockholm. I take part in a comprehensive team concerning PWS dealing with both clinic and research. The research part belongs to the Department of Women and Child Health at the Karolinska Institute.

My group is interested in the identification of genes, involved in a neuropathology, the Prader-Willi syndrome (PWS). This is a complex disease involving at least two genes from a large imprinted region where only paternal alleles are expressed. PWS is an interesting pathology to investigate genetic factors involved in brain dysfunction.
Previously, we characterized two candidate genes, Necdin and Magel2, members of the MAGE gene family. Necdin deficient mice present characteristics reminiscent of PWS symptoms and Magel2 deficient mice are under inv estigation. Now, using genetically modified mouse models we investigate the physiological and pathophysiological role of both genes as well as their molecular and cellular function..Our research effort is aimed at understanding the genes and molecular mechanisms regulating the early stages of animal development: in particular the definition of axial polarity, the regionalisation of the embryo, the control of morphogenetic processes, the cellular interactions which control the different stages of organ development, including the development and the plasticity of the nervous system, and somite and heart development.
A range of animal models are used to address these questions, including drosophila, ascidia, xenopus, as well as the chick, rat and mouse. Each of these model organisms has its own advantages in the study of different aspects of development and their complementarity assures an overall scientific coherence within the institute.
The scientific equipment necessary for this type of research is grouped into innovative and effective technical platforms. One of the key objectives of the IBDML is to encourage interactions with different disciplines – in particular mathematics, physics and chemistry - in order to develop new experimental approaches. Another priority is to encourage the development and integration of new independent research teams.
In addition to its major role in carrying out basic research, the IBDML continues to promote projects of a more applied nature, aimed at the development of therapeutic molecules. Furthermore the institute, in collaboration with the scientific departments of the university, plays an important role in the development of teaching programmes in biology and at the interface between biology and other disciplines.
More on IBDML website: http://ibdml.univ-mrs.fr