Nemaline Myopathy Support Group

Research

Dr. Carina Wallgren-Pettersson MD. (Finland)

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.

Since the sequence of the human genome is largely known, allowing the identification and characterization of all human genes, the next era of human genetics will be marked by genome-wide analyses in both monogenetic and multifactorial disorders, as well as functional studies aiming at the understanding of complex interactions between multiple genes. Detailed analyses of gene defects behind human diseases and of the corresponding gene products, proteins, have become possible with a precision that was only dreamed of some years ago.

Modern human genetics is rapidly moving towards functional analyses of genes and gene products, as well as the efficient use of bioinformatics tools to analyse genome information existing in databases. The results obtained will help us to understand the detailed pathogenesis of human diseases. Since this new knowledge will form the basis for accurate diagnosis, novel individualized treatments, prevention, and intervention strategies in human diseases, it will result in the profound transformation of the way medicine is practised.

More about Dr. Carina Wallgren-Pettersson MD. »»

TREAT-NMD

image

Institute of Genetic Medicine
University of Newcastle upon Tyne
International Centre for Life
Newcastle upon Tyne
NE1 3BZ
United Kingdom

T: +44 (0)191 241 8617
F: +44 (0)191 241 8770

Learn more »»

Supporting MAP Nemaline

In 2010 Meriel (aged 21 months) was diagnosed with Nemaline myopathy, a very rare muscle condition with no treatment or cure, which changed the lives of her family overnight. Setting up a family fund like MAP Nemaline is a great way to fundraise for Muscular Dystrophy UK to keep our vital research moving forward.

Learn more »»