I’m a physician with special interest in neurology and neuromuscular disorders currently located in Munich, Germany. I have just finished my Medical Education at the Ludwig-Maximilian Universty in Munich and am writing my doctoral thesis I began in Newcastle.
I spent a year at Newcastle in the lab of Professor Hanns Lochmüller where I wanted to identif the underlying genetic cause of oculopharyngodistal myopathy an inherited muscle condition with patients from across the globe. I used linkage analysis and recombinant haplotype reconstruction to map the disease locus and whole exome sequencing to further investigate these patients. Additionally, I proofed the pathogenicity of a novel splice-site mutation in the GAA gene causing Pompe disease and attended clinics as a medical student.
Wagner, Matias et al. “Presymptomatic late-onset Pompe disease identied by the dried blood spot test”. Neuromuscular Disorders 23.1 (2013), pp. 89-92.
This is my first publication (and is therefore my most important paper!) and was written during my stay in Newcastle.