Assistant Professor ‘Preclinical therapies for inherited neurometabolic diseases’
Radboud UMC is looking for an enthusiastic and ambitious Assistant Professor (Universitair Docent) to perform preclinical therapeutic studies for inherited neurometabolic diseases.
This large group of more than 600 different recessive conditions present with central and peripheral nervous system features (epilepsy, dementia, neuropathy, sensory deficiency) which are usually progressive. For an increasing number of these conditions (n>100), therapeutic options are available, varying from nutritional supplements, medical diets, small molecule therapies, organ transplant, stem cell and gene therapies. Only a subset is currently included in the newborn screening panels.
In this position, you will focus on preclinical therapeutic studies for inherited neurometabolic diseases including pyridoxine-dependent epilepsy, Glucose-1 transporter deficiency, congenital disorders of glycosylation and mitochondrial disorders. Modelling these diseases in cell lines including patient’s induced pluripotent stem cell-derived neurons and model organisms is key in your program. This also involves phenotyping with identification of outcome parameters, high throughput compound screening, gene-based therapies (e.g. CRISPR-Cas9) and RNA-based therapies (e.g. antisense oligonucleotides). Efficacy studies will include structural, functional and biochemical parameters, using experimental strategies like omics-based approaches, neuro-imaging, neurophysiologic studies. The content of this work is in line with the goals of the Dutch consortium ‘United for Metabolic Diseases’.
Information All additional information about the vacancy can be obtained from Prof. Clara van Karnebeek or Prof. Dirk Lefeber via the secretary office, +31(24) 361 44 30. Use the online application form to submit your application. Please apply before 29 May 2020.
