Consultant in Medical Genetics, Principal Investigator, University Teacher
Carina Wallgren-Pettersson, M.D., Co-Convenor of the ENMC International Consortium on Nemaline Myopathy, Principal Investigator and Teacher at the Department of Medical Genetics, University of Helsinki and the Folkhälsan Research Centre, Head and Consultant in Medical Genetics at the Folkhälsan Department of Medical Genetics, organiser of numerous international workshops on myotubular myopathy and nemaline myopathy as well as on other muscle disorders.
My role in TREAT-NMD , apart from being a member of the Governing Board, is to facilitate the application of the tools of TREAT-NMD to the congenital myopathies, thus integrating this group of disorders into the scope of the Network.
I have studied nemaline myopathy since 1984 and published original articles, book chapters and recommendations for the care of patients with this disorder. Together with Professor Nigel G. Laing in Perth, Australia, I have initiated the formation of the ENMC International Consortium on Nemaline Myopathy, whose research activities we co-ordinate together. The International Database on Nemaline Myopathy is located in Helsinki, while publicly available mutational databases are in Leiden (LOVD).
Similarly, I have worked on another congenital myopathy, myotubular myopathy, and co-ordinated the activities of the ENMC International Consortium on Myotubular Myopathy from 1993 to 2000.
My research group at the Department of Medical Genetics, University of Helsinki and the Folkhälsan Institute of Genetics focuses mainly on nemaline myopathy and related disorders. We are conducting our studies in close collaboration with the International Consortium, studying clinical, molecular genetic, histological and muscle developmental aspects of this group of disorders. The aim is to understand the causes and pathogenesis of this group of disorders and ultimately to pave the way for specific therapies.