Organisational unit: Research group
Research areas and keywords
UKÄ subject classification
- Cell and Molecular Biology
- Medical Genetics
The ultimate goal of the research performed in my laboratory is to understand the pathogenesis of laminin a2 chain deficient muscular dystrophy (also known as MDC1A) and to develop a pharmacological treatment for this deteriorating disorder.
Muscular dystrophy is a general term that describes a group of inherited diseases that cause muscle weakness and muscle loss. A severe type is MDC1A, which is characterized by neonatal onset of muscle weakness, hypotonia, progressive joint contractures, inability to stand and walk, peripheral neuropathy and white matter changes. Common serious complications of MDC1A include respiratory failure and respiratory tract infection is the most common cause of death, which occurs in the first decade of life in 30% of the patients. However, most patients die in their teens. Currently, there is no cure for this devastating disease.
Recent research outputs
Kinga I Gawlik, Lindsay, K., Hyatt, E., Kember, R., Place, K. M., Marks, R. M., Madeleine Durbeej, Prescott, S. A., Ivakine, E. A. & Cohn, R. D., 2019 Aug, In : Nature. 572, 7767, p. 125-130 6 p.
Research output: Contribution to journal › Letter
Effects of metformin on congenital muscular dystrophy type 1A disease progression in mice: a gender impact studyFontes Oliveira, C., M. Soares Oliveira, B., Körner, Z., Vahid Harandi & Madeleine Durbeej-Hjalt, 2018 Nov 2, In : Scientific Reports. 15 p., 16302 .
Research output: Contribution to journal › Article
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