Dr Birgit Assmann

Biography

I started and completed my medical studies in the Medical Faculty of the University of Saarland in Homburg/Saar (Germany). In parallel I worked in a biochemical laboratory of our University in order to complete a thesis work (similar to PhD work) with a focus on the establishment of a high performance liquid chromatography (HPLC) method in order to quantify pyrimidine metabolites in physiological concentrations. My mentor war Prof. Dr. Hermann Haas. With this method I investigated reference values and possible circardian rhythms of excretion in urine (essentially uracil and pseudouridine with some determinations of thymine). HPLC was rather new at the time and the background to my thesis was a newly discovered pyrimidine degradation defect (Dihydropyrimidine-dehydrogenase deficiency, OMIM 274270) in which grossly elevated peaks of pyrimidine bases in gas-chromatography-mass-spectrometry were seen. Physiological excretion concentrations were below the detection limit of this gas-chromatography method.

My clinical work started with nearly two years of neonatology (including some follow-up) in the Neonatology department of the University Children’s hospital in Nancy (France) headed at the time by Prof. Dr. Paul Vert. I then had to perform my clinical training of Paediatrics in Germany (University Children’s Hospital Marburg/Lahn) where I met Prof. Dr. Georg Hoffmann. HPLC analysis of neurotransmitters was quite newly established in a few labs including in London at the time and then also in Marburg. I was allowed to work as a research fellow to Prof. Dr. Robert Surtees at Great Ormond Street Hospital with a focus on extrapyramidal movement disorders. We worked up three children with a strange complex extrapyramidal movement disorder and highly elevated dopamine metabolites in CSF. Two DNA samples were available in which at the time no mutations were found in investigated genes (first hypothesis – dopamine receptor defect, second hypothesis tyrosine hydroxylase gain-of-function mutation, third hypothesis dopamine transporter deficiency [later intronic mutations were discovered by Prof. Dr. Manju Kurian]).

I have been working in University Children’s Hospital Düsseldorf (Germany) headed by Prof. Dr. Ertan Mayatepek for some years but for more than 15 years in total I am working in the University Children’s Hospital of Heidelberg with Prof. Dr. Georg Hoffmann as Clinical director. Within the neuropaediatric field extrapyramidal movement disorders especially of neurometabolic origin are a focus of my work.