SMA Europe Call 2008

SMA Europe e. V. vergibt 750.000 Euro für Forschungsvorhaben auf dem Gebiet der Spinalen Muskelatrophie. Die Initiative SMA beteiligt sich mit 50.000 Euro. Nach Beurteilung durch externe Gutachter und den eigenen wissenschaftlichen Beirat werden die folgenden Projekte gefördert:

• Prof. Margarida Gama-Carvalho, Universidade de Lisboa

  “Characterization of post-transcriptional control mechanisms regulating SMN2 gene expression.”
  Compared to other inherited disorders, the prospect for development of effective therapies for Spinal Muscular Atrophy (SMA) is greatly enhanced by the fact that the human genome has an almost identical duplicate of the gene mutated in the disease. The SMN2 gene is able to produce the functional SMN protein, albeit at low levels, which are unable to fully replace the loss of function of the SMN1 gene. Natural variations in the expression levels of the SMN2 gene have however been shown to modulate disease severity in affected individuals. Thus, understanding the mechanisms that regulate SMN2 gene expression is expected to provide the basis for new therapies with significant benefits for patients. Gene expression can be controlled at several different levels. Control at the level of transcription can be considered as the primary switch which turns a gene on or off. However, work from the past years has shown that post-transcriptional events can impact the outcome of gene expression at comparable levels by controlling the stability and translation efficiency of the messenger RNA molecule. Many of these control mechanisms are brought into place by small non-coding RNA molecules called microRNAs, which have been shown to be amenable to efficient manipulation by artificial mimics that can either block or enhance their function. In this project we propose to characterize the mechanisms regulating SMN2 mRNA stability and translation leading to the establishment of  methods for their modulation, with the long term aim of developing therapeutic approaches for increasing the production of functional SMN protein in SMA patients.

• Prof. Eugenio Mercuri, Università Cattolica, Roma

  “Outcome measures in SMA types II and III”

• Prof. Giacomo Pietro Comi, Università di Milano

  “Development of a stem cell approach for treating Spinal Muscular Atrophy”

• Dr. Martine Barkats, Institut de Myologie, Paris

  “Evaluation of AAV-mediated gene therapy in murine and feline SMA models”

• Dr. Monir Shababi, University of Missouri, Columbia, USA

  “A Two-Pronged Approach to Develop a Treatment for Spinal Muscular Atrophy”